Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of skull size (HP:0000240)

Parent Node:
Increased head circumference (HP:0040194)

..Starting node
..Macrocephaly (HP:0000256)

Term ID:

256

Name:

Macrocephaly

Synonym:

Big calvaria; Big cranium; Big head; Big skull; Increased size of cranium; Increased size of head; Increased size of skull; Large calvaria; Large cranium; Large head; Large head circumference; Large skull; Macrocephalus; Macrocrania; Megacephaly

Definition:

Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.

Comments:

Reference:

HP:0000256

Genes and Diseases:

Child Nodes:

........

Progressive macrocephaly (HP:0004481)

........

Relative macrocephaly (HP:0004482)

........

Macrocephaly at birth (HP:0004488)

........

Postnatal macrocephaly (HP:0005490)

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000256	HP:0000256	Macrocephaly	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.		254
HP:0000256	HP:0000256	Macrocephaly	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent		254
HP:0000256	HP:0000256	Macrocephaly	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		197
HP:0000256	HP:0000256	Macrocephaly	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare		200
HP:0000256	HP:0000256	Macrocephaly	0	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type			34
HP:0000256	HP:0000256	Macrocephaly	0	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type			34
HP:0000256	HP:0000256	Macrocephaly	0	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0000256	HP:0000256	Macrocephaly	0	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0000256	HP:0000256	Macrocephaly	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	.		26
HP:0000256	HP:0000256	Macrocephaly	0	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability	HP:0040283 - Occasional		59
HP:0000256	HP:0000256	Macrocephaly	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040283 - Occasional		1
HP:0000256	HP:0000256	Macrocephaly	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		54
HP:0000256	HP:0000256	Macrocephaly	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6			54
HP:0000256	HP:0000256	Macrocephaly	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		54
HP:0000256	HP:0000256	Macrocephaly	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.		54
HP:0000256	HP:0000256	Macrocephaly	0	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional		19
HP:0000256	HP:0000256	Macrocephaly	0	AKT3 CL E G H	10000	393	OMIM:615937	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2	.		19
HP:0000256	HP:0000256	Macrocephaly	0	AKT3 CL E G H	10000	393	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040281 - Very frequent		19
HP:0000256	HP:0000256	Macrocephaly	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0000256	HP:0000256	Macrocephaly	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0000256	HP:0000256	Macrocephaly	0	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71	.
HP:0000256	HP:0000256	Macrocephaly	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0000256	HP:0000256	Macrocephaly	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040282 - Frequent		34
HP:0000256	HP:0000256	Macrocephaly	0	ANK3 CL E G H	288	494	ORPHA:356996	ANK3-related intellectual disability-sleep disturbance syndrome	HP:0040283 - Occasional		176
HP:0000256	HP:0000256	Macrocephaly	0	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant	.		164
HP:0000256	HP:0000256	Macrocephaly	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0000256	HP:0000256	Macrocephaly	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent		49
HP:0000256	HP:0000256	Macrocephaly	0	AP1S2 CL E G H	8905	560	ORPHA:1568	X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome	HP:0040281 - Very frequent		13
HP:0000256	HP:0000256	Macrocephaly	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0000256	HP:0000256	Macrocephaly	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		1
HP:0000256	HP:0000256	Macrocephaly	0	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3			1
HP:0000256	HP:0000256	Macrocephaly	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.		29
HP:0000256	HP:0000256	Macrocephaly	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.		120
HP:0000256	HP:0000256	Macrocephaly	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000256	HP:0000256	Macrocephaly	0	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0000256	HP:0000256	Macrocephaly	0	ASPA CL E G H	443	756	ORPHA:314918	Mild Canavan disease	HP:0040283 - Occasional		48
HP:0000256	HP:0000256	Macrocephaly	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040281 - Very frequent		48
HP:0000256	HP:0000256	Macrocephaly	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.		7
HP:0000256	HP:0000256	Macrocephaly	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent		43
HP:0000256	HP:0000256	Macrocephaly	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0000256	HP:0000256	Macrocephaly	0	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID	.		85
HP:0000256	HP:0000256	Macrocephaly	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent		29
HP:0000256	HP:0000256	Macrocephaly	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1	.		29
HP:0000256	HP:0000256	Macrocephaly	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent		17
HP:0000256	HP:0000256	Macrocephaly	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.		114
HP:0000256	HP:0000256	Macrocephaly	0	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome			7
HP:0000256	HP:0000256	Macrocephaly	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.		46
HP:0000256	HP:0000256	Macrocephaly	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000256	HP:0000256	Macrocephaly	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0000256	HP:0000256	Macrocephaly	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0000256	HP:0000256	Macrocephaly	0	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome	HP:0040282 - Frequent		13
HP:0000256	HP:0000256	Macrocephaly	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent		385
HP:0000256	HP:0000256	Macrocephaly	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		276
HP:0000256	HP:0000256	Macrocephaly	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000256	HP:0000256	Macrocephaly	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0000256	HP:0000256	Macrocephaly	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0000256	HP:0000256	Macrocephaly	0	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93			104
HP:0000256	HP:0000256	Macrocephaly	0	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome	HP:0040282 - Frequent		13
HP:0000256	HP:0000256	Macrocephaly	0	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69	HP:0040284 - Very rare		11
HP:0000256	HP:0000256	Macrocephaly	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0000256	HP:0000256	Macrocephaly	0	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59	.		1
HP:0000256	HP:0000256	Macrocephaly	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0000256	HP:0000256	Macrocephaly	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040284 - Very rare		34
HP:0000256	HP:0000256	Macrocephaly	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		247
HP:0000256	HP:0000256	Macrocephaly	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent		33
HP:0000256	HP:0000256	Macrocephaly	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.		33
HP:0000256	HP:0000256	Macrocephaly	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.		4
HP:0000256	HP:0000256	Macrocephaly	0	CCND2 CL E G H	894	1583	OMIM:615938	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3	.		11
HP:0000256	HP:0000256	Macrocephaly	0	CCND2 CL E G H	894	1583	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040281 - Very frequent		11
HP:0000256	HP:0000256	Macrocephaly	0	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies	.		3
HP:0000256	HP:0000256	Macrocephaly	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000256	HP:0000256	Macrocephaly	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent		4
HP:0000256	HP:0000256	Macrocephaly	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000256	HP:0000256	Macrocephaly	0	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies	HP:0040283 - Occasional		114
HP:0000256	HP:0000256	Macrocephaly	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0000256	HP:0000256	Macrocephaly	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0000256	HP:0000256	Macrocephaly	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0000256	HP:0000256	Macrocephaly	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		200
HP:0000256	HP:0000256	Macrocephaly	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0000256	HP:0000256	Macrocephaly	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly			7
HP:0000256	HP:0000256	Macrocephaly	0	CHD1 CL E G H	1105	1915	ORPHA:529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome	HP:0040283 - Occasional		2
HP:0000256	HP:0000256	Macrocephaly	0	CHD1 CL E G H	1105	1915	OMIM:617682	Pilarowski-Bjornsson syndrome	.		2
HP:0000256	HP:0000256	Macrocephaly	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.		2
HP:0000256	HP:0000256	Macrocephaly	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.		14
HP:0000256	HP:0000256	Macrocephaly	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0000256	HP:0000256	Macrocephaly	0	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome	HP:0040283 - Occasional		52
HP:0000256	HP:0000256	Macrocephaly	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000256	HP:0000256	Macrocephaly	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional		45
HP:0000256	HP:0000256	Macrocephaly	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040281 - Very frequent		102
HP:0000256	HP:0000256	Macrocephaly	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		102
HP:0000256	HP:0000256	Macrocephaly	0	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0000256	HP:0000256	Macrocephaly	0	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1	HP:0040284 - Very rare		518
HP:0000256	HP:0000256	Macrocephaly	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040284 - Very rare		284
HP:0000256	HP:0000256	Macrocephaly	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type	.		284
HP:0000256	HP:0000256	Macrocephaly	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent		193
HP:0000256	HP:0000256	Macrocephaly	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0000256	HP:0000256	Macrocephaly	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0000256	HP:0000256	Macrocephaly	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	.		149
HP:0000256	HP:0000256	Macrocephaly	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000256	HP:0000256	Macrocephaly	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0000256	HP:0000256	Macrocephaly	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040282 - Frequent		38
HP:0000256	HP:0000256	Macrocephaly	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0000256	HP:0000256	Macrocephaly	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1	.		102
HP:0000256	HP:0000256	Macrocephaly	0	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	.		108
HP:0000256	HP:0000256	Macrocephaly	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent		108
HP:0000256	HP:0000256	Macrocephaly	0	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome	HP:0040283 - Occasional		33
HP:0000256	HP:0000256	Macrocephaly	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0000256	HP:0000256	Macrocephaly	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040283 - Occasional		72
HP:0000256	HP:0000256	Macrocephaly	0	DICER1 CL E G H	23405	17098	OMIM:618272	Global developmental delay, lung cysts, overgrowth, and wilms tumor	.		670
HP:0000256	HP:0000256	Macrocephaly	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040281 - Very frequent		164
HP:0000256	HP:0000256	Macrocephaly	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0000256	HP:0000256	Macrocephaly	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0000256	HP:0000256	Macrocephaly	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		22
HP:0000256	HP:0000256	Macrocephaly	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0000256	HP:0000256	Macrocephaly	0	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0000256	HP:0000256	Macrocephaly	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0000256	HP:0000256	Macrocephaly	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0000256	HP:0000256	Macrocephaly	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		3
HP:0000256	HP:0000256	Macrocephaly	0	DLL1 CL E G H	28514	2908	OMIM:618709	NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS			3
HP:0000256	HP:0000256	Macrocephaly	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0000256	HP:0000256	Macrocephaly	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		45
HP:0000256	HP:0000256	Macrocephaly	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0000256	HP:0000256	Macrocephaly	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0000256	HP:0000256	Macrocephaly	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome	.		44
HP:0000256	HP:0000256	Macrocephaly	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040281 - Very frequent		44
HP:0000256	HP:0000256	Macrocephaly	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent		79
HP:0000256	HP:0000256	Macrocephaly	0	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia			3
HP:0000256	HP:0000256	Macrocephaly	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	HP:0040283 - Occasional		18
HP:0000256	HP:0000256	Macrocephaly	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0000256	HP:0000256	Macrocephaly	0	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0000256	HP:0000256	Macrocephaly	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040282 - Frequent		144
HP:0000256	HP:0000256	Macrocephaly	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0000256	HP:0000256	Macrocephaly	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		14
HP:0000256	HP:0000256	Macrocephaly	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.		14
HP:0000256	HP:0000256	Macrocephaly	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0000256	HP:0000256	Macrocephaly	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		5
HP:0000256	HP:0000256	Macrocephaly	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0000256	HP:0000256	Macrocephaly	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		304
HP:0000256	HP:0000256	Macrocephaly	0	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI	.
HP:0000256	HP:0000256	Macrocephaly	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0000256	HP:0000256	Macrocephaly	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0000256	HP:0000256	Macrocephaly	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040283 - Occasional		6
HP:0000256	HP:0000256	Macrocephaly	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0000256	HP:0000256	Macrocephaly	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		4
HP:0000256	HP:0000256	Macrocephaly	0	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040282 - Frequent		42
HP:0000256	HP:0000256	Macrocephaly	0	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040282 - Frequent		24
HP:0000256	HP:0000256	Macrocephaly	0	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040282 - Frequent		32
HP:0000256	HP:0000256	Macrocephaly	0	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040282 - Frequent		38
HP:0000256	HP:0000256	Macrocephaly	0	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040282 - Frequent		48
HP:0000256	HP:0000256	Macrocephaly	0	EML1 CL E G H	2009	3330	OMIM:600348	Band heterotopia	.		3
HP:0000256	HP:0000256	Macrocephaly	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4	HP:0040283 - Occasional		12
HP:0000256	HP:0000256	Macrocephaly	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040283 - Occasional		36
HP:0000256	HP:0000256	Macrocephaly	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		37
HP:0000256	HP:0000256	Macrocephaly	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		27
HP:0000256	HP:0000256	Macrocephaly	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		77
HP:0000256	HP:0000256	Macrocephaly	0	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	.		102
HP:0000256	HP:0000256	Macrocephaly	0	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040282 - Frequent		102
HP:0000256	HP:0000256	Macrocephaly	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		81
HP:0000256	HP:0000256	Macrocephaly	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0000256	HP:0000256	Macrocephaly	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome			8
HP:0000256	HP:0000256	Macrocephaly	0	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.		8
HP:0000256	HP:0000256	Macrocephaly	0	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0000256	HP:0000256	Macrocephaly	0	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD			7
HP:0000256	HP:0000256	Macrocephaly	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0000256	HP:0000256	Macrocephaly	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0000256	HP:0000256	Macrocephaly	0	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0000256	HP:0000256	Macrocephaly	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0000256	HP:0000256	Macrocephaly	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0000256	HP:0000256	Macrocephaly	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		17
HP:0000256	HP:0000256	Macrocephaly	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0000256	HP:0000256	Macrocephaly	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent		172
HP:0000256	HP:0000256	Macrocephaly	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		172
HP:0000256	HP:0000256	Macrocephaly	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		172
HP:0000256	HP:0000256	Macrocephaly	0	FGFR2 CL E G H	2263	3689	ORPHA:168624	Familial scaphocephaly syndrome, McGillivray type	HP:0040281 - Very frequent		175
HP:0000256	HP:0000256	Macrocephaly	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040282 - Frequent		145
HP:0000256	HP:0000256	Macrocephaly	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0000256	HP:0000256	Macrocephaly	0	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA	.		145
HP:0000256	HP:0000256	Macrocephaly	0	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia	HP:0040283 - Occasional		145
HP:0000256	HP:0000256	Macrocephaly	0	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome	HP:0040283 - Occasional		145
HP:0000256	HP:0000256	Macrocephaly	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0000256	HP:0000256	Macrocephaly	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040281 - Very frequent		145
HP:0000256	HP:0000256	Macrocephaly	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040281 - Very frequent		145
HP:0000256	HP:0000256	Macrocephaly	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.		145
HP:0000256	HP:0000256	Macrocephaly	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency			301
HP:0000256	HP:0000256	Macrocephaly	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent		2
HP:0000256	HP:0000256	Macrocephaly	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	HP:0040283 - Occasional		2
HP:0000256	HP:0000256	Macrocephaly	0	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria	HP:0040283 - Occasional		111
HP:0000256	HP:0000256	Macrocephaly	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent		157
HP:0000256	HP:0000256	Macrocephaly	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent		184
HP:0000256	HP:0000256	Macrocephaly	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent		8
HP:0000256	HP:0000256	Macrocephaly	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome	.		30
HP:0000256	HP:0000256	Macrocephaly	0	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome	HP:0040282 - Frequent		30
HP:0000256	HP:0000256	Macrocephaly	0	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0000256	HP:0000256	Macrocephaly	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0000256	HP:0000256	Macrocephaly	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0000256	HP:0000256	Macrocephaly	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		48
HP:0000256	HP:0000256	Macrocephaly	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0000256	HP:0000256	Macrocephaly	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040283 - Occasional		184
HP:0000256	HP:0000256	Macrocephaly	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0000256	HP:0000256	Macrocephaly	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0000256	HP:0000256	Macrocephaly	0	GABBR2 CL E G H	9568	4507	OMIM:617903	Neurodevelopmental disorder with poor language and loss of hand skills	.		5
HP:0000256	HP:0000256	Macrocephaly	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0000256	HP:0000256	Macrocephaly	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive			121
HP:0000256	HP:0000256	Macrocephaly	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0000256	HP:0000256	Macrocephaly	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0000256	HP:0000256	Macrocephaly	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		2
HP:0000256	HP:0000256	Macrocephaly	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0000256	HP:0000256	Macrocephaly	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I	.		115
HP:0000256	HP:0000256	Macrocephaly	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency			115
HP:0000256	HP:0000256	Macrocephaly	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0000256	HP:0000256	Macrocephaly	0	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I			188
HP:0000256	HP:0000256	Macrocephaly	0	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive	.		68
HP:0000256	HP:0000256	Macrocephaly	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0000256	HP:0000256	Macrocephaly	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0000256	HP:0000256	Macrocephaly	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		173
HP:0000256	HP:0000256	Macrocephaly	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0000256	HP:0000256	Macrocephaly	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040281 - Very frequent		270
HP:0000256	HP:0000256	Macrocephaly	0	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome	HP:0040281 - Very frequent		270
HP:0000256	HP:0000256	Macrocephaly	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0000256	HP:0000256	Macrocephaly	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent		270
HP:0000256	HP:0000256	Macrocephaly	0	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040283 - Occasional		2
HP:0000256	HP:0000256	Macrocephaly	0	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.		2
HP:0000256	HP:0000256	Macrocephaly	0	GNAQ CL E G H	2776	4390	OMIM:185300	Sturge-Weber syndrome	.		7
HP:0000256	HP:0000256	Macrocephaly	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional		7
HP:0000256	HP:0000256	Macrocephaly	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000256	HP:0000256	Macrocephaly	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000256	HP:0000256	Macrocephaly	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0000256	HP:0000256	Macrocephaly	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0000256	HP:0000256	Macrocephaly	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent		73
HP:0000256	HP:0000256	Macrocephaly	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0000256	HP:0000256	Macrocephaly	0	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome	.
HP:0000256	HP:0000256	Macrocephaly	0	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome	HP:0040282 - Frequent
HP:0000256	HP:0000256	Macrocephaly	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent
HP:0000256	HP:0000256	Macrocephaly	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000256	HP:0000256	Macrocephaly	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0000256	HP:0000256	Macrocephaly	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94			30
HP:0000256	HP:0000256	Macrocephaly	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional		30
HP:0000256	HP:0000256	Macrocephaly	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.		54
HP:0000256	HP:0000256	Macrocephaly	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome	.
HP:0000256	HP:0000256	Macrocephaly	0	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			4
HP:0000256	HP:0000256	Macrocephaly	0	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			4
HP:0000256	HP:0000256	Macrocephaly	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000256	HP:0000256	Macrocephaly	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0000256	HP:0000256	Macrocephaly	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040283 - Occasional		33
HP:0000256	HP:0000256	Macrocephaly	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	.		2
HP:0000256	HP:0000256	Macrocephaly	0	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent		6
HP:0000256	HP:0000256	Macrocephaly	0	HEPACAM CL E G H	220296	26361	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	.		82
HP:0000256	HP:0000256	Macrocephaly	0	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A	.		82
HP:0000256	HP:0000256	Macrocephaly	0	HEPACAM CL E G H	220296	26361	OMIM:613926	Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation	.		82
HP:0000256	HP:0000256	Macrocephaly	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.		16
HP:0000256	HP:0000256	Macrocephaly	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent		16
HP:0000256	HP:0000256	Macrocephaly	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		10
HP:0000256	HP:0000256	Macrocephaly	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0000256	HP:0000256	Macrocephaly	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0000256	HP:0000256	Macrocephaly	0	HMGA2 CL E G H	8091	5009	OMIM:618908	SILVER-RUSSELL SYNDROME 5; SRS5			2
HP:0000256	HP:0000256	Macrocephaly	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0000256	HP:0000256	Macrocephaly	0	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E	HP:0040283 - Occasional		25
HP:0000256	HP:0000256	Macrocephaly	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0000256	HP:0000256	Macrocephaly	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040281 - Very frequent		113
HP:0000256	HP:0000256	Macrocephaly	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000256	HP:0000256	Macrocephaly	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.		98
HP:0000256	HP:0000256	Macrocephaly	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0000256	HP:0000256	Macrocephaly	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040281 - Very frequent		86
HP:0000256	HP:0000256	Macrocephaly	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040281 - Very frequent		86
HP:0000256	HP:0000256	Macrocephaly	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.		86
HP:0000256	HP:0000256	Macrocephaly	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.		115
HP:0000256	HP:0000256	Macrocephaly	0	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3	HP:0040283 - Occasional		11
HP:0000256	HP:0000256	Macrocephaly	0	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0000256	HP:0000256	Macrocephaly	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		65
HP:0000256	HP:0000256	Macrocephaly	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0000256	HP:0000256	Macrocephaly	0	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	HP:0040281 - Very frequent		5
HP:0000256	HP:0000256	Macrocephaly	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000256	HP:0000256	Macrocephaly	0	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies			9
HP:0000256	HP:0000256	Macrocephaly	0	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			9
HP:0000256	HP:0000256	Macrocephaly	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0000256	HP:0000256	Macrocephaly	0	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			9
HP:0000256	HP:0000256	Macrocephaly	0	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia	HP:0040283 - Occasional		44
HP:0000256	HP:0000256	Macrocephaly	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0000256	HP:0000256	Macrocephaly	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000256	HP:0000256	Macrocephaly	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.		111
HP:0000256	HP:0000256	Macrocephaly	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		111
HP:0000256	HP:0000256	Macrocephaly	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.		18
HP:0000256	HP:0000256	Macrocephaly	0	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia	HP:0040281 - Very frequent		18
HP:0000256	HP:0000256	Macrocephaly	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent		18
HP:0000256	HP:0000256	Macrocephaly	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0000256	HP:0000256	Macrocephaly	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0000256	HP:0000256	Macrocephaly	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional		283
HP:0000256	HP:0000256	Macrocephaly	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional		283
HP:0000256	HP:0000256	Macrocephaly	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0000256	HP:0000256	Macrocephaly	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0000256	HP:0000256	Macrocephaly	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.		51
HP:0000256	HP:0000256	Macrocephaly	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent		23
HP:0000256	HP:0000256	Macrocephaly	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0000256	HP:0000256	Macrocephaly	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0000256	HP:0000256	Macrocephaly	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0000256	HP:0000256	Macrocephaly	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040283 - Occasional		81
HP:0000256	HP:0000256	Macrocephaly	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040281 - Very frequent		167
HP:0000256	HP:0000256	Macrocephaly	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0000256	HP:0000256	Macrocephaly	0	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome	.		167
HP:0000256	HP:0000256	Macrocephaly	0	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type	HP:0040281 - Very frequent		167
HP:0000256	HP:0000256	Macrocephaly	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0000256	HP:0000256	Macrocephaly	0	KLLN CL E G H	100144748	37212	OMIM:615107	Cowden syndrome 4			1
HP:0000256	HP:0000256	Macrocephaly	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.		1
HP:0000256	HP:0000256	Macrocephaly	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0000256	HP:0000256	Macrocephaly	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040282 - Frequent		13
HP:0000256	HP:0000256	Macrocephaly	0	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41	.		13
HP:0000256	HP:0000256	Macrocephaly	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		196
HP:0000256	HP:0000256	Macrocephaly	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent		196
HP:0000256	HP:0000256	Macrocephaly	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.		196
HP:0000256	HP:0000256	Macrocephaly	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040282 - Frequent		196
HP:0000256	HP:0000256	Macrocephaly	0	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius	.		134
HP:0000256	HP:0000256	Macrocephaly	0	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome	.		134
HP:0000256	HP:0000256	Macrocephaly	0	L2HGDH CL E G H	79944	20499	ORPHA:79314	L-2-hydroxyglutaric aciduria	HP:0040282 - Frequent		34
HP:0000256	HP:0000256	Macrocephaly	0	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0000256	HP:0000256	Macrocephaly	0	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5	.		71
HP:0000256	HP:0000256	Macrocephaly	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent		136
HP:0000256	HP:0000256	Macrocephaly	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0000256	HP:0000256	Macrocephaly	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0000256	HP:0000256	Macrocephaly	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0000256	HP:0000256	Macrocephaly	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		13
HP:0000256	HP:0000256	Macrocephaly	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0000256	HP:0000256	Macrocephaly	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040282 - Frequent		289
HP:0000256	HP:0000256	Macrocephaly	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome	.		289
HP:0000256	HP:0000256	Macrocephaly	0	LRP4 CL E G H	4038	6696	OMIM:614305	Sclerosteosis 2	.		124
HP:0000256	HP:0000256	Macrocephaly	0	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome	HP:0040281 - Very frequent		125
HP:0000256	HP:0000256	Macrocephaly	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0000256	HP:0000256	Macrocephaly	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0000256	HP:0000256	Macrocephaly	0	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome	HP:0040283 - Occasional		5
HP:0000256	HP:0000256	Macrocephaly	0	MACROH2A1 CL E G H	9555	4740	ORPHA:1275	Brachydactyly-elbow wrist dysplasia syndrome	HP:0040281 - Very frequent
HP:0000256	HP:0000256	Macrocephaly	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0000256	HP:0000256	Macrocephaly	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.		136
HP:0000256	HP:0000256	Macrocephaly	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional		136
HP:0000256	HP:0000256	Macrocephaly	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000256	HP:0000256	Macrocephaly	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		134
HP:0000256	HP:0000256	Macrocephaly	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		178
HP:0000256	HP:0000256	Macrocephaly	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0000256	HP:0000256	Macrocephaly	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent		228
HP:0000256	HP:0000256	Macrocephaly	0	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent		228
HP:0000256	HP:0000256	Macrocephaly	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.		228
HP:0000256	HP:0000256	Macrocephaly	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0000256	HP:0000256	Macrocephaly	0	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0000256	HP:0000256	Macrocephaly	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		45
HP:0000256	HP:0000256	Macrocephaly	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.		39
HP:0000256	HP:0000256	Macrocephaly	0	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	.		91
HP:0000256	HP:0000256	Macrocephaly	0	MLC1 CL E G H	23209	17082	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	.		112
HP:0000256	HP:0000256	Macrocephaly	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.		96
HP:0000256	HP:0000256	Macrocephaly	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.		26
HP:0000256	HP:0000256	Macrocephaly	0	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	.		29
HP:0000256	HP:0000256	Macrocephaly	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000256	HP:0000256	Macrocephaly	0	MSX2 CL E G H	4488	7392	OMIM:168500	Parietal foramina			45
HP:0000256	HP:0000256	Macrocephaly	0	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia			45
HP:0000256	HP:0000256	Macrocephaly	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.		185
HP:0000256	HP:0000256	Macrocephaly	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0000256	HP:0000256	Macrocephaly	0	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional		68
HP:0000256	HP:0000256	Macrocephaly	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040281 - Very frequent		68
HP:0000256	HP:0000256	Macrocephaly	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.		68
HP:0000256	HP:0000256	Macrocephaly	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0000256	HP:0000256	Macrocephaly	0	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7	HP:0040283 - Occasional		93
HP:0000256	HP:0000256	Macrocephaly	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.		5
HP:0000256	HP:0000256	Macrocephaly	0	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18	HP:0040284 - Very rare		31
HP:0000256	HP:0000256	Macrocephaly	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0000256	HP:0000256	Macrocephaly	0	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0000256	HP:0000256	Macrocephaly	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040284 - Very rare		43
HP:0000256	HP:0000256	Macrocephaly	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040282 - Frequent		1952
HP:0000256	HP:0000256	Macrocephaly	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0000256	HP:0000256	Macrocephaly	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0000256	HP:0000256	Macrocephaly	0	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome			1952
HP:0000256	HP:0000256	Macrocephaly	0	NFIA CL E G H	4774	7784	ORPHA:401986	1p31p32 microdeletion syndrome			12
HP:0000256	HP:0000256	Macrocephaly	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.		12
HP:0000256	HP:0000256	Macrocephaly	0	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development	.		1
HP:0000256	HP:0000256	Macrocephaly	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040282 - Frequent		40
HP:0000256	HP:0000256	Macrocephaly	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.		40
HP:0000256	HP:0000256	Macrocephaly	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia	.		10
HP:0000256	HP:0000256	Macrocephaly	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040282 - Frequent		217
HP:0000256	HP:0000256	Macrocephaly	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040283 - Occasional		217
HP:0000256	HP:0000256	Macrocephaly	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0000256	HP:0000256	Macrocephaly	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0000256	HP:0000256	Macrocephaly	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		45
HP:0000256	HP:0000256	Macrocephaly	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0000256	HP:0000256	Macrocephaly	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0000256	HP:0000256	Macrocephaly	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0000256	HP:0000256	Macrocephaly	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent		138
HP:0000256	HP:0000256	Macrocephaly	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0000256	HP:0000256	Macrocephaly	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		544
HP:0000256	HP:0000256	Macrocephaly	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000256	HP:0000256	Macrocephaly	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		544
HP:0000256	HP:0000256	Macrocephaly	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent		2
HP:0000256	HP:0000256	Macrocephaly	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0000256	HP:0000256	Macrocephaly	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2			143
HP:0000256	HP:0000256	Macrocephaly	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0000256	HP:0000256	Macrocephaly	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040282 - Frequent		1
HP:0000256	HP:0000256	Macrocephaly	0	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10	.		201
HP:0000256	HP:0000256	Macrocephaly	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.		201
HP:0000256	HP:0000256	Macrocephaly	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0000256	HP:0000256	Macrocephaly	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000256	HP:0000256	Macrocephaly	0	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0000256	HP:0000256	Macrocephaly	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0000256	HP:0000256	Macrocephaly	0	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2	.		40
HP:0000256	HP:0000256	Macrocephaly	0	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		169
HP:0000256	HP:0000256	Macrocephaly	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0000256	HP:0000256	Macrocephaly	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		169
HP:0000256	HP:0000256	Macrocephaly	0	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		75
HP:0000256	HP:0000256	Macrocephaly	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		75
HP:0000256	HP:0000256	Macrocephaly	0	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		4
HP:0000256	HP:0000256	Macrocephaly	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		4
HP:0000256	HP:0000256	Macrocephaly	0	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		65
HP:0000256	HP:0000256	Macrocephaly	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		65
HP:0000256	HP:0000256	Macrocephaly	0	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		66
HP:0000256	HP:0000256	Macrocephaly	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		66
HP:0000256	HP:0000256	Macrocephaly	0	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		46
HP:0000256	HP:0000256	Macrocephaly	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		46
HP:0000256	HP:0000256	Macrocephaly	0	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		59
HP:0000256	HP:0000256	Macrocephaly	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		59
HP:0000256	HP:0000256	Macrocephaly	0	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		62
HP:0000256	HP:0000256	Macrocephaly	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		62
HP:0000256	HP:0000256	Macrocephaly	0	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		82
HP:0000256	HP:0000256	Macrocephaly	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		82
HP:0000256	HP:0000256	Macrocephaly	0	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		106
HP:0000256	HP:0000256	Macrocephaly	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		106
HP:0000256	HP:0000256	Macrocephaly	0	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		47
HP:0000256	HP:0000256	Macrocephaly	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		47
HP:0000256	HP:0000256	Macrocephaly	0	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		99
HP:0000256	HP:0000256	Macrocephaly	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		99
HP:0000256	HP:0000256	Macrocephaly	0	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		98
HP:0000256	HP:0000256	Macrocephaly	0	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B	.		98
HP:0000256	HP:0000256	Macrocephaly	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		98
HP:0000256	HP:0000256	Macrocephaly	0	PHF21A CL E G H	51317	24156	OMIM:618725	INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS			2
HP:0000256	HP:0000256	Macrocephaly	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040283 - Occasional		29
HP:0000256	HP:0000256	Macrocephaly	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.		46
HP:0000256	HP:0000256	Macrocephaly	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0000256	HP:0000256	Macrocephaly	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	HP:0040282 - Frequent		37
HP:0000256	HP:0000256	Macrocephaly	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.		12
HP:0000256	HP:0000256	Macrocephaly	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		162
HP:0000256	HP:0000256	Macrocephaly	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5			162
HP:0000256	HP:0000256	Macrocephaly	0	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional		162
HP:0000256	HP:0000256	Macrocephaly	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome			162
HP:0000256	HP:0000256	Macrocephaly	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040281 - Very frequent		162
HP:0000256	HP:0000256	Macrocephaly	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.		12
HP:0000256	HP:0000256	Macrocephaly	0	PIK3R2 CL E G H	5296	8980	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040281 - Very frequent		12
HP:0000256	HP:0000256	Macrocephaly	0	PITX1 CL E G H	5307	9004	ORPHA:1275	Brachydactyly-elbow wrist dysplasia syndrome	HP:0040281 - Very frequent		8
HP:0000256	HP:0000256	Macrocephaly	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0000256	HP:0000256	Macrocephaly	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0000256	HP:0000256	Macrocephaly	0	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040283 - Occasional		82
HP:0000256	HP:0000256	Macrocephaly	0	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2			82
HP:0000256	HP:0000256	Macrocephaly	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0000256	HP:0000256	Macrocephaly	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional
HP:0000256	HP:0000256	Macrocephaly	0	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0000256	HP:0000256	Macrocephaly	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	.		11
HP:0000256	HP:0000256	Macrocephaly	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	.	HP:0011463 - Childhood onset	10
HP:0000256	HP:0000256	Macrocephaly	0	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature			1129
HP:0000256	HP:0000256	Macrocephaly	0	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency			1129
HP:0000256	HP:0000256	Macrocephaly	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0000256	HP:0000256	Macrocephaly	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0000256	HP:0000256	Macrocephaly	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent		180
HP:0000256	HP:0000256	Macrocephaly	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent		33
HP:0000256	HP:0000256	Macrocephaly	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent		18
HP:0000256	HP:0000256	Macrocephaly	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent		213
HP:0000256	HP:0000256	Macrocephaly	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent		221
HP:0000256	HP:0000256	Macrocephaly	0	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2			6
HP:0000256	HP:0000256	Macrocephaly	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040284 - Very rare
HP:0000256	HP:0000256	Macrocephaly	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0000256	HP:0000256	Macrocephaly	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000256	HP:0000256	Macrocephaly	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	HP:0040284 - Very rare		2
HP:0000256	HP:0000256	Macrocephaly	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040281 - Very frequent		10
HP:0000256	HP:0000256	Macrocephaly	0	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35	.		10
HP:0000256	HP:0000256	Macrocephaly	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0000256	HP:0000256	Macrocephaly	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0000256	HP:0000256	Macrocephaly	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7	.		665
HP:0000256	HP:0000256	Macrocephaly	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0000256	HP:0000256	Macrocephaly	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		665
HP:0000256	HP:0000256	Macrocephaly	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent		665
HP:0000256	HP:0000256	Macrocephaly	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0000256	HP:0000256	Macrocephaly	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0000256	HP:0000256	Macrocephaly	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent		6
HP:0000256	HP:0000256	Macrocephaly	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0000256	HP:0000256	Macrocephaly	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040281 - Very frequent		948
HP:0000256	HP:0000256	Macrocephaly	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		948
HP:0000256	HP:0000256	Macrocephaly	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1			948
HP:0000256	HP:0000256	Macrocephaly	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent		948
HP:0000256	HP:0000256	Macrocephaly	0	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease	HP:0040281 - Very frequent		948
HP:0000256	HP:0000256	Macrocephaly	0	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome			948
HP:0000256	HP:0000256	Macrocephaly	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		948
HP:0000256	HP:0000256	Macrocephaly	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040282 - Frequent		948
HP:0000256	HP:0000256	Macrocephaly	0	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	HP:0040283 - Occasional		948
HP:0000256	HP:0000256	Macrocephaly	0	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E	HP:0040283 - Occasional		6
HP:0000256	HP:0000256	Macrocephaly	0	RAB39B CL E G H	116442	16499	ORPHA:2379	Early-onset parkinsonism-intellectual disability syndrome	HP:0040281 - Very frequent		34
HP:0000256	HP:0000256	Macrocephaly	0	RAB39B CL E G H	116442	16499	OMIM:300271	Mental retardation, X-linked 72			34
HP:0000256	HP:0000256	Macrocephaly	0	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome	.		34
HP:0000256	HP:0000256	Macrocephaly	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0000256	HP:0000256	Macrocephaly	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional		3
HP:0000256	HP:0000256	Macrocephaly	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0000256	HP:0000256	Macrocephaly	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0000256	HP:0000256	Macrocephaly	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0000256	HP:0000256	Macrocephaly	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		3
HP:0000256	HP:0000256	Macrocephaly	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0000256	HP:0000256	Macrocephaly	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.		5
HP:0000256	HP:0000256	Macrocephaly	0	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040281 - Very frequent		11
HP:0000256	HP:0000256	Macrocephaly	0	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1			90
HP:0000256	HP:0000256	Macrocephaly	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent		120
HP:0000256	HP:0000256	Macrocephaly	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.		120
HP:0000256	HP:0000256	Macrocephaly	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		167
HP:0000256	HP:0000256	Macrocephaly	0	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0000256	HP:0000256	Macrocephaly	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040283 - Occasional		90
HP:0000256	HP:0000256	Macrocephaly	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0000256	HP:0000256	Macrocephaly	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0000256	HP:0000256	Macrocephaly	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional		34
HP:0000256	HP:0000256	Macrocephaly	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		237
HP:0000256	HP:0000256	Macrocephaly	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		147
HP:0000256	HP:0000256	Macrocephaly	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		129
HP:0000256	HP:0000256	Macrocephaly	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.		2
HP:0000256	HP:0000256	Macrocephaly	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		60
HP:0000256	HP:0000256	Macrocephaly	0	SEC23B CL E G H	10483	10702	OMIM:616858	Cowden syndrome 7			60
HP:0000256	HP:0000256	Macrocephaly	0	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.		5
HP:0000256	HP:0000256	Macrocephaly	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X			52
HP:0000256	HP:0000256	Macrocephaly	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0000256	HP:0000256	Macrocephaly	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome	.		60
HP:0000256	HP:0000256	Macrocephaly	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		60
HP:0000256	HP:0000256	Macrocephaly	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0000256	HP:0000256	Macrocephaly	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional		53
HP:0000256	HP:0000256	Macrocephaly	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0000256	HP:0000256	Macrocephaly	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0000256	HP:0000256	Macrocephaly	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0000256	HP:0000256	Macrocephaly	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		67
HP:0000256	HP:0000256	Macrocephaly	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0000256	HP:0000256	Macrocephaly	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0000256	HP:0000256	Macrocephaly	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent		2
HP:0000256	HP:0000256	Macrocephaly	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0000256	HP:0000256	Macrocephaly	0	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia	HP:0040282 - Frequent		2
HP:0000256	HP:0000256	Macrocephaly	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0000256	HP:0000256	Macrocephaly	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0000256	HP:0000256	Macrocephaly	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		32
HP:0000256	HP:0000256	Macrocephaly	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0000256	HP:0000256	Macrocephaly	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0000256	HP:0000256	Macrocephaly	0	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria	HP:0040283 - Occasional		28
HP:0000256	HP:0000256	Macrocephaly	0	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040281 - Very frequent		166
HP:0000256	HP:0000256	Macrocephaly	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040281 - Very frequent		166
HP:0000256	HP:0000256	Macrocephaly	0	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		68
HP:0000256	HP:0000256	Macrocephaly	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040283 - Occasional		255
HP:0000256	HP:0000256	Macrocephaly	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional		178
HP:0000256	HP:0000256	Macrocephaly	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia	.		9
HP:0000256	HP:0000256	Macrocephaly	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent		9
HP:0000256	HP:0000256	Macrocephaly	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0000256	HP:0000256	Macrocephaly	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0000256	HP:0000256	Macrocephaly	0	SMARCB1 CL E G H	6598	11103	ORPHA:99966	Atypical teratoid rhabdoid tumor	HP:0040282 - Frequent		87
HP:0000256	HP:0000256	Macrocephaly	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		135
HP:0000256	HP:0000256	Macrocephaly	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included	.		22
HP:0000256	HP:0000256	Macrocephaly	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0000256	HP:0000256	Macrocephaly	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		2
HP:0000256	HP:0000256	Macrocephaly	0	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8	.		2
HP:0000256	HP:0000256	Macrocephaly	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0000256	HP:0000256	Macrocephaly	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0000256	HP:0000256	Macrocephaly	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0000256	HP:0000256	Macrocephaly	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0000256	HP:0000256	Macrocephaly	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0000256	HP:0000256	Macrocephaly	0	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia	HP:0040281 - Very frequent		26
HP:0000256	HP:0000256	Macrocephaly	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.		26
HP:0000256	HP:0000256	Macrocephaly	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0000256	HP:0000256	Macrocephaly	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040281 - Very frequent		109
HP:0000256	HP:0000256	Macrocephaly	0	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies	HP:0040283 - Occasional		6
HP:0000256	HP:0000256	Macrocephaly	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0000256	HP:0000256	Macrocephaly	0	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome	.		136
HP:0000256	HP:0000256	Macrocephaly	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000256	HP:0000256	Macrocephaly	0	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0000256	HP:0000256	Macrocephaly	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0000256	HP:0000256	Macrocephaly	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0000256	HP:0000256	Macrocephaly	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0000256	HP:0000256	Macrocephaly	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0000256	HP:0000256	Macrocephaly	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		99
HP:0000256	HP:0000256	Macrocephaly	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0000256	HP:0000256	Macrocephaly	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0000256	HP:0000256	Macrocephaly	0	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040281 - Very frequent		6
HP:0000256	HP:0000256	Macrocephaly	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0000256	HP:0000256	Macrocephaly	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0000256	HP:0000256	Macrocephaly	0	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32	.		124
HP:0000256	HP:0000256	Macrocephaly	0	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040282 - Frequent		80
HP:0000256	HP:0000256	Macrocephaly	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0000256	HP:0000256	Macrocephaly	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		1
HP:0000256	HP:0000256	Macrocephaly	0	SYN1 CL E G H	6853	11494	OMIM:300491	Epilepsy, X-linked, with variable learning disabilities and behavior disorders	HP:0040283 - Occasional		58
HP:0000256	HP:0000256	Macrocephaly	0	SYN1 CL E G H	6853	11494	ORPHA:85294	X-linked epilepsy-learning disabilities-behavior disorders syndrome	HP:0040281 - Very frequent		58
HP:0000256	HP:0000256	Macrocephaly	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000256	HP:0000256	Macrocephaly	0	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	HP:0040283 - Occasional
HP:0000256	HP:0000256	Macrocephaly	0	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive	.		4
HP:0000256	HP:0000256	Macrocephaly	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0000256	HP:0000256	Macrocephaly	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040283 - Occasional		13
HP:0000256	HP:0000256	Macrocephaly	0	TBL1X CL E G H	6907	11585	OMIM:301033	Hypothyroidism, congenital, nongoitrous, 8	.		1
HP:0000256	HP:0000256	Macrocephaly	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040280 - Obligate		5
HP:0000256	HP:0000256	Macrocephaly	0	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis	HP:0040283 - Occasional		19
HP:0000256	HP:0000256	Macrocephaly	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	HP:0040284 - Very rare		1
HP:0000256	HP:0000256	Macrocephaly	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		82
HP:0000256	HP:0000256	Macrocephaly	0	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		82
HP:0000256	HP:0000256	Macrocephaly	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0000256	HP:0000256	Macrocephaly	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0000256	HP:0000256	Macrocephaly	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0000256	HP:0000256	Macrocephaly	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		1
HP:0000256	HP:0000256	Macrocephaly	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0000256	HP:0000256	Macrocephaly	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000256	HP:0000256	Macrocephaly	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000256	HP:0000256	Macrocephaly	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0000256	HP:0000256	Macrocephaly	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0000256	HP:0000256	Macrocephaly	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		32
HP:0000256	HP:0000256	Macrocephaly	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0000256	HP:0000256	Macrocephaly	0	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6			9
HP:0000256	HP:0000256	Macrocephaly	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040282 - Frequent		6
HP:0000256	HP:0000256	Macrocephaly	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0000256	HP:0000256	Macrocephaly	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.		45
HP:0000256	HP:0000256	Macrocephaly	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000256	HP:0000256	Macrocephaly	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		166
HP:0000256	HP:0000256	Macrocephaly	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	HP:0040284 - Very rare		1
HP:0000256	HP:0000256	Macrocephaly	0	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		72
HP:0000256	HP:0000256	Macrocephaly	0	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease	HP:0040281 - Very frequent		72
HP:0000256	HP:0000256	Macrocephaly	0	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease	HP:0040281 - Very frequent		44
HP:0000256	HP:0000256	Macrocephaly	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	.		44
HP:0000256	HP:0000256	Macrocephaly	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		44
HP:0000256	HP:0000256	Macrocephaly	0	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000256	HP:0000256	Macrocephaly	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0000256	HP:0000256	Macrocephaly	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0000256	HP:0000256	Macrocephaly	0	TRIM37 CL E G H	4591	7523	ORPHA:2576	Mulibrey nanism	HP:0040281 - Very frequent		78
HP:0000256	HP:0000256	Macrocephaly	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0000256	HP:0000256	Macrocephaly	0	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040281 - Very frequent		133
HP:0000256	HP:0000256	Macrocephaly	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0000256	HP:0000256	Macrocephaly	0	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria			106
HP:0000256	HP:0000256	Macrocephaly	0	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria			39
HP:0000256	HP:0000256	Macrocephaly	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional		64
HP:0000256	HP:0000256	Macrocephaly	0	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria			64
HP:0000256	HP:0000256	Macrocephaly	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0000256	HP:0000256	Macrocephaly	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent		7
HP:0000256	HP:0000256	Macrocephaly	0	UBE3A CL E G H	7337	12496	ORPHA:238446	15q11q13 microduplication syndrome	HP:0040283 - Occasional		278
HP:0000256	HP:0000256	Macrocephaly	0	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent		33
HP:0000256	HP:0000256	Macrocephaly	0	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14			33
HP:0000256	HP:0000256	Macrocephaly	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0000256	HP:0000256	Macrocephaly	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0000256	HP:0000256	Macrocephaly	0	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99			27
HP:0000256	HP:0000256	Macrocephaly	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000256	HP:0000256	Macrocephaly	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent		83
HP:0000256	HP:0000256	Macrocephaly	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0000256	HP:0000256	Macrocephaly	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		136
HP:0000256	HP:0000256	Macrocephaly	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		98
HP:0000256	HP:0000256	Macrocephaly	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.		98
HP:0000256	HP:0000256	Macrocephaly	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0000256	HP:0000256	Macrocephaly	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0000256	HP:0000256	Macrocephaly	0	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.		2
HP:0000256	HP:0000256	Macrocephaly	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0000256	HP:0000256	Macrocephaly	0	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent		9
HP:0000256	HP:0000256	Macrocephaly	0	ZBTB42 CL E G H	100128927	32550	OMIM:616248	Lethal congenital contracture syndrome 6	.		1
HP:0000256	HP:0000256	Macrocephaly	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0000256	HP:0000256	Macrocephaly	0	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent		10
HP:0000256	HP:0000256	Macrocephaly	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0000256	HP:0000256	Macrocephaly	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0000256	HP:0000256	Macrocephaly	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		34
HP:0000256	HP:0000256	Macrocephaly	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0000256	HP:0000256	Macrocephaly	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0000256	HP:0000256	Macrocephaly	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.		397
HP:0000256	HP:0000256	Macrocephaly	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	HP:0040284 - Very rare		5
HP:0000256	HP:0004482	Relative macrocephaly	1	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type	HP:0040281 - Very frequent		34
HP:0000256	HP:0004482	Relative macrocephaly	1	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type			34
HP:0000256	HP:0004482	Relative macrocephaly	1	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset	.
HP:0000256	HP:0004481	Progressive macrocephaly	1	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.		54
HP:0000256	HP:0004482	Relative macrocephaly	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent		3179
HP:0000256	HP:0004482	Relative macrocephaly	1	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3	.		1
HP:0000256	HP:0004482	Relative macrocephaly	1	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome	HP:0040283 - Occasional		7
HP:0000256	HP:0004488	Macrocephaly at birth	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		99
HP:0000256	HP:0004482	Relative macrocephaly	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.		276
HP:0000256	HP:0004482	Relative macrocephaly	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent		114
HP:0000256	HP:0004482	Relative macrocephaly	1	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.		7
HP:0000256	HP:0004482	Relative macrocephaly	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	.		38
HP:0000256	HP:0004482	Relative macrocephaly	1	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS	.		72
HP:0000256	HP:0004482	Relative macrocephaly	1	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0000256	HP:0004488	Macrocephaly at birth	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		167
HP:0000256	HP:0004482	Relative macrocephaly	1	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia			3
HP:0000256	HP:0004482	Relative macrocephaly	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional		3
HP:0000256	HP:0005490	Postnatal macrocephaly	1	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent		8
HP:0000256	HP:0004482	Relative macrocephaly	1	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.		301
HP:0000256	HP:0004488	Macrocephaly at birth	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0000256	HP:0004481	Progressive macrocephaly	1	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent		115
HP:0000256	HP:0004481	Progressive macrocephaly	1	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease	.		188
HP:0000256	HP:0004481	Progressive macrocephaly	1	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I			188
HP:0000256	HP:0005490	Postnatal macrocephaly	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000256	HP:0004482	Relative macrocephaly	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040282 - Frequent
HP:0000256	HP:0004482	Relative macrocephaly	1	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional		4
HP:0000256	HP:0004482	Relative macrocephaly	1	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040282 - Frequent		4
HP:0000256	HP:0004481	Progressive macrocephaly	1	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0000256	HP:0004482	Relative macrocephaly	1	HMGA2 CL E G H	8091	5009	OMIM:618908	SILVER-RUSSELL SYNDROME 5; SRS5			2
HP:0000256	HP:0004482	Relative macrocephaly	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent		2
HP:0000256	HP:0004482	Relative macrocephaly	1	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0000256	HP:0004482	Relative macrocephaly	1	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies	.		9
HP:0000256	HP:0004482	Relative macrocephaly	1	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional		9
HP:0000256	HP:0004482	Relative macrocephaly	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent		9
HP:0000256	HP:0004482	Relative macrocephaly	1	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040282 - Frequent		9
HP:0000256	HP:0004482	Relative macrocephaly	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0000256	HP:0004482	Relative macrocephaly	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0000256	HP:0004482	Relative macrocephaly	1	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040281 - Very frequent		3
HP:0000256	HP:0004482	Relative macrocephaly	1	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0000256	HP:0004482	Relative macrocephaly	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0000256	HP:0004482	Relative macrocephaly	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		645
HP:0000256	HP:0004482	Relative macrocephaly	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0000256	HP:0004482	Relative macrocephaly	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0000256	HP:0005490	Postnatal macrocephaly	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0000256	HP:0004482	Relative macrocephaly	1	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0000256	HP:0004482	Relative macrocephaly	1	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000256	HP:0004488	Macrocephaly at birth	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		7
HP:0000256	HP:0004488	Macrocephaly at birth	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		19
HP:0000256	HP:0004481	Progressive macrocephaly	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.		27
HP:0000256	HP:0004482	Relative macrocephaly	1	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome	.		1952
HP:0000256	HP:0004482	Relative macrocephaly	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040281 - Very frequent		10
HP:0000256	HP:0004482	Relative macrocephaly	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0000256	HP:0004482	Relative macrocephaly	1	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.		2
HP:0000256	HP:0004482	Relative macrocephaly	1	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2	.		143
HP:0000256	HP:0004488	Macrocephaly at birth	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0000256	HP:0005490	Postnatal macrocephaly	1	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	.
HP:0000256	HP:0004482	Relative macrocephaly	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0000256	HP:0004488	Macrocephaly at birth	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040282 - Frequent		37
HP:0000256	HP:0004481	Progressive macrocephaly	1	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.		162
HP:0000256	HP:0004481	Progressive macrocephaly	1	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.		162
HP:0000256	HP:0004482	Relative macrocephaly	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent		3
HP:0000256	HP:0004482	Relative macrocephaly	1	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature	.		1129
HP:0000256	HP:0004482	Relative macrocephaly	1	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	.		1129
HP:0000256	HP:0004482	Relative macrocephaly	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent		138
HP:0000256	HP:0004482	Relative macrocephaly	1	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	HP:0040283 - Occasional		6
HP:0000256	HP:0004482	Relative macrocephaly	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0000256	HP:0004482	Relative macrocephaly	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.		6
HP:0000256	HP:0004481	Progressive macrocephaly	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.		948
HP:0000256	HP:0005490	Postnatal macrocephaly	1	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome	.		948
HP:0000256	HP:0004482	Relative macrocephaly	1	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0000256	HP:0004482	Relative macrocephaly	1	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0000256	HP:0004488	Macrocephaly at birth	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		1200
HP:0000256	HP:0004482	Relative macrocephaly	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional		34
HP:0000256	HP:0004482	Relative macrocephaly	1	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.		52
HP:0000256	HP:0004482	Relative macrocephaly	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0000256	HP:0004488	Macrocephaly at birth	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040284 - Very rare		57
HP:0000256	HP:0004482	Relative macrocephaly	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040282 - Frequent		14
HP:0000256	HP:0004482	Relative macrocephaly	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	.		14
HP:0000256	HP:0004482	Relative macrocephaly	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000256	HP:0004482	Relative macrocephaly	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0000256	HP:0004482	Relative macrocephaly	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0000256	HP:0004482	Relative macrocephaly	1	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6	.		9
HP:0000256	HP:0004482	Relative macrocephaly	1	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0000256	HP:0004482	Relative macrocephaly	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0000256	HP:0004482	Relative macrocephaly	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0000256	HP:0004482	Relative macrocephaly	1	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia	.		133
HP:0000256	HP:0004482	Relative macrocephaly	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0000256	HP:0004482	Relative macrocephaly	1	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99			27
HP:0000256	HP:0004482	Relative macrocephaly	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000256	HP:0004482	Relative macrocephaly	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2	.		14
HP:0000256	HP:0004482	Relative macrocephaly	1	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040283 - Occasional		14
HP:0000256	HP:0004482	Relative macrocephaly	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		83

Genes (421) :ABCC9 ACADM ACADVL ACAN ACER3 ADGRL1 ADK AFF2 AGGF1 AKT1 AKT3 ALDH1A2 ALG13 ALKBH8 AMER1 ANK3 ANKH ANKRD17 ANTXR2 AP1S2 APC APC2 ARL6 ARSB ASH1L ASPA ASXL2 B3GALNT2 B3GLCT B4GALT1 B4GALT7 B4GAT1 BBS1 BGN BICD2 BICRA BIN1 BLTP1 BMP2 BMPR1A BRAF BRWD3 C12ORF57 CACNA1E CAMK2A CAMK2G CAMTA1 CC2D2A CCDC22 CCDC28B CCND2 CCNK CDC42BPB CDCA7 CDH2 CDKN1C CDON CEP120 CHD1 CHD3 CHD4 CHD8 CHRNA7 CLCN3 CLCN4 CLCN7 CLIC2 CNTNAP2 COL2A1 COL4A1 CRPPA CSF1R CSGALNACT1 CUL4B CWC27 D2HGDH DAG1 DEAF1 DHCR24 DICER1 DIS3L2 DISP1 DLK1 DLL1 DLL3 DMPK DNM2 DNMT3A DNMT3B DOCK3 DOCK6 DPH1 DPH2 DPYD DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 EDN1 EED EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EML1 ERF ERMARD ETFA ETFB ETFDH EXT2 EZH2 FAM111A FAM149B1 FAR1 FBN1 FBXO11 FBXW7 FGF8 FGFR1 FGFR2 FGFR3 FH FIBP FIG4 FKRP FKTN FLI1 FMR1 FOCAD FOXH1 FOXP1 FZD2 GABBR2 GAD1 GAN GAS1 GCDH GFAP GJA1 GLI2 GLI3 GNAI3 GNAQ GNB1 GNB2 GNE GNS GPC3 GPC4 GRB10 GRIA3 GUSB H1-4 H19 H3-3A H3-3B HDAC4 HDAC6 HELLS HEPACAM HERC1 HES7 HEXB HMGA2 HOXD13 HRAS HSD17B4 HUWE1 IDH1 IDS IDUA IFT43 IFT74 IFT80 IFT81 IGBP1 IGF2 IHH IL6ST INPP5E INPPL1 ITCH KANSL1 KCNC2 KCNH1 KCNJ1 KCNJ8 KDM1A KDM5C KIF7 KLLN KMT2E KMT5B KPTN KRAS L1CAM L2HGDH LAMA5 LAMB1 LARGE1 LBR LFNG LMNA LRP2 LRP4 LRP5 LZTR1 MAB21L2 MACROH2A1 MAN1B1 MAN2B1 MAN2C1 MAP2K1 MAP2K2 MECP2 MED12 MEG3 MESP2 MGAT2 MITF MLC1 MOCS1 MOCS2 MPDZ MRAS MSX2 MTM1 MTMR14 MTOR MYF6 MYH8 MYMK NDUFAF3 NDUFS4 NDUFV1 NEU1 NF1 NFIA NFIB NFIX NKX3-2 NLRP3 NODAL NONO NOTCH2 NRAS NSD1 NXN OBSL1 ODC1 OFD1 OPHN1 OTUD5 PAK1 PCGF2 PDSS1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHF21A PHF6 PIGA PIGN PIGT PIK3CA PIK3R2 PITX1 PKDCC PLAG1 PLCB4 PLCH1 PLEC PLG POC1A POLE POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 POP1 POU4F1 PPP1CB PPP1R12A PPP2CA PPP2R5D PTCH1 PTCH2 PTDSS1 PTEN PTHLH RAB39B RAC1 RAF1 RERE RIN2 RIPPLY2 RIT1 RNF125 RNF135 ROBO3 ROR2 RPGRIP1L RTL1 RUNX2 RXYLT1 RYR1 SATB2 SDHB SDHC SDHD SEC23A SEC23B SEC24D SERPINH1 SETD1A SETD2 SH2B1 SHANK3 SHH SHOC2 SHPK SIM1 SIX2 SIX3 SLC16A2 SLC25A1 SLC26A2 SLC29A3 SLC2A1 SLC2A10 SLC35D1 SLC39A14 SMAD4 SMARCB1 SMC1A SMO SMPD1 SNX10 SNX14 SON SOS1 SOST SOX9 SPINT2 SPRED1 SPTBN1 SRCAP STAG2 STIL STRADA STT3A SUFU SUMF1 SUZ12 SYN1 TAOK1 TBC1D2B TBC1D7 TBCK TBL1X TBX15 TBX6 TCF20 TCIRG1 TDGF1 TET3 TFE3 TGIF1 THRA TMCO1 TMEM216 TMEM53 TMEM67 TMEM94 TNFRSF11A TNFRSF11B TNFSF11 TNRC6B TONSL TRIM37 TRIO TRIP11 TUBA1A TUBB2B TUBB3 UBE2A UBE3A UPF3B USF3 USP7 USP9X VPS35L WASHC5 WDR35 WNT5A XYLT1 YME1L1 ZBTB20 ZBTB24 ZBTB42 ZBTB7A ZDHHC9 ZIC2 ZMPSTE24 ZNF469 ZSWIM6

Diseases (468) :OMIM:239850 ORPHA:1517 ORPHA:42 ORPHA:26793 OMIM:612813 ORPHA:171866 OMIM:617762 OMIM:620065 OMIM:614300 ORPHA:100973 ORPHA:90308 ORPHA:201 OMIM:615109 ORPHA:744 OMIM:176920 ORPHA:99802 OMIM:615937 ORPHA:83473 OMIM:620025 OMIM:300884 OMIM:618504 OMIM:300373 ORPHA:2780 ORPHA:356996 OMIM:123000 OMIM:619504 ORPHA:2176 ORPHA:1568 ORPHA:261584 ORPHA:821 OMIM:617169 OMIM:209900 OMIM:253200 OMIM:617796 OMIM:271900 ORPHA:314918 ORPHA:314911 OMIM:617190 ORPHA:899 OMIM:261540 OMIM:607091 ORPHA:75496 OMIM:130070 OMIM:300989 OMIM:618291 OMIM:619325 ORPHA:169189 OMIM:617822 ORPHA:261295 ORPHA:79076 ORPHA:1340 OMIM:115150 OMIM:613707 OMIM:613706 OMIM:300659 ORPHA:1777 OMIM:618285 OMIM:617798 OMIM:618522 OMIM:614756 ORPHA:314647 ORPHA:1454 ORPHA:7 OMIM:300963 OMIM:615938 OMIM:618147 OMIM:619841 ORPHA:2268 OMIM:618929 OMIM:614732 ORPHA:397590 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 OMIM:616300 ORPHA:529965 OMIM:617682 OMIM:618205 OMIM:617159 OMIM:615032 ORPHA:199318 OMIM:619512 ORPHA:485350 ORPHA:53 ORPHA:667 OMIM:300886 OMIM:610042 ORPHA:485 OMIM:151210 OMIM:614643 OMIM:618476 OMIM:618870 OMIM:300354 ORPHA:85293 OMIM:250410 OMIM:600721 OMIM:616538 ORPHA:468620 OMIM:602398 ORPHA:35107 OMIM:618272 ORPHA:2849 ORPHA:254525 OMIM:618709 ORPHA:2311 ORPHA:589821 OMIM:615879 ORPHA:404443 OMIM:618292 OMIM:614219 ORPHA:459061 OMIM:620062 ORPHA:293948 ORPHA:1675 ORPHA:3107 OMIM:180700 OMIM:616331 OMIM:616894 ORPHA:93271 OMIM:615503 ORPHA:137888 OMIM:617561 ORPHA:3447 OMIM:603896 OMIM:600348 OMIM:600775 ORPHA:75857 OMIM:231680 OMIM:616682 ORPHA:466926 OMIM:277590 ORPHA:93325 OMIM:127000 OMIM:618763 OMIM:619338 OMIM:616914 OMIM:618089 OMIM:620012 ORPHA:2396 ORPHA:168624 ORPHA:15 OMIM:100800 OMIM:146000 ORPHA:429 ORPHA:53271 OMIM:602849 ORPHA:1860 ORPHA:93274 OMIM:187600 OMIM:606812 ORPHA:500095 OMIM:617107 ORPHA:208441 ORPHA:2308 OMIM:300624 ORPHA:908 OMIM:619991 ORPHA:391372 OMIM:613670 OMIM:617903 OMIM:619124 OMIM:256850 OMIM:231670 ORPHA:25 OMIM:203450 ORPHA:363717 OMIM:218400 ORPHA:36 ORPHA:380 OMIM:175700 ORPHA:672 OMIM:602483 OMIM:185300 ORPHA:3205 OMIM:616973 OMIM:619503 OMIM:269921 OMIM:252940 ORPHA:373 OMIM:312870 OMIM:301026 ORPHA:2662 ORPHA:96182 OMIM:300699 ORPHA:364028 OMIM:253220 OMIM:617537 ORPHA:231144 ORPHA:231140 OMIM:619720 OMIM:619721 ORPHA:1001 OMIM:300863 OMIM:604004 OMIM:613925 OMIM:613926 OMIM:617011 ORPHA:457359 OMIM:268800 ORPHA:309155 OMIM:618908 ORPHA:93387 OMIM:218040 ORPHA:3071 OMIM:261515 OMIM:309590 ORPHA:99646 ORPHA:217093 ORPHA:217085 OMIM:309900 OMIM:607014 OMIM:614099 OMIM:617119 OMIM:617895 ORPHA:52055 OMIM:300472 OMIM:616489 ORPHA:63446 OMIM:607778 OMIM:619750 OMIM:213300 OMIM:258480 ORPHA:2746 ORPHA:3144 OMIM:613385 ORPHA:228426 ORPHA:363958 ORPHA:363965 OMIM:619913 OMIM:135500 OMIM:241200 OMIM:616728 ORPHA:477993 OMIM:300534 ORPHA:85279 OMIM:200990 OMIM:607131 ORPHA:166024 OMIM:615107 OMIM:618512 OMIM:617788 ORPHA:397612 OMIM:615637 OMIM:600268 ORPHA:3339 OMIM:307000 OMIM:303350 ORPHA:79314 OMIM:620076 OMIM:615191 OMIM:215140 OMIM:169400 OMIM:618019 ORPHA:740 ORPHA:2143 OMIM:222448 OMIM:614305 ORPHA:178377 OMIM:616564 OMIM:605275 OMIM:615877 ORPHA:1275 OMIM:614202 OMIM:248500 ORPHA:309282 OMIM:619775 OMIM:300260 ORPHA:93932 ORPHA:776 OMIM:309520 OMIM:305450 OMIM:212066 OMIM:617306 OMIM:252150 OMIM:252160 OMIM:615219 OMIM:618499 OMIM:168500 OMIM:168550 OMIM:310400 ORPHA:457485 OMIM:616638 OMIM:158300 OMIM:254940 OMIM:618240 OMIM:252010 OMIM:618225 ORPHA:93400 ORPHA:363700 OMIM:162200 OMIM:601321 OMIM:193520 ORPHA:401986 OMIM:613735 OMIM:618286 ORPHA:420179 OMIM:614753 OMIM:613330 ORPHA:1451 ORPHA:575 ORPHA:466791 OMIM:300967 ORPHA:955 OMIM:613224 OMIM:117550 ORPHA:1507 OMIM:618529 OMIM:612921 OMIM:619075 ORPHA:544488 OMIM:300804 OMIM:300209 OMIM:300486 OMIM:301056 OMIM:618158 OMIM:618371 OMIM:614651 ORPHA:44 OMIM:214100 ORPHA:912 OMIM:614863 OMIM:618725 ORPHA:127 OMIM:300868 ORPHA:280633 OMIM:614080 OMIM:615398 OMIM:615108 OMIM:602501 ORPHA:60040 OMIM:603387 OMIM:618821 OMIM:614669 OMIM:619895 OMIM:612138 OMIM:217090 OMIM:614813 OMIM:615139 OMIM:618336 ORPHA:3455 OMIM:264090 OMIM:617396 OMIM:617506 OMIM:618820 OMIM:618354 ORPHA:457279 OMIM:616355 OMIM:109400 OMIM:610828 ORPHA:77301 ORPHA:2658 OMIM:151050 ORPHA:109 OMIM:158350 ORPHA:65285 OMIM:605309 ORPHA:2969 ORPHA:137608 ORPHA:2379 OMIM:300271 OMIM:311510 OMIM:617751 ORPHA:500159 OMIM:611553 OMIM:616975 OMIM:613075 OMIM:615355 OMIM:616260 ORPHA:137634 OMIM:607313 OMIM:268310 ORPHA:1452 ORPHA:251028 OMIM:607812 OMIM:616858 OMIM:616294 OMIM:613848 OMIM:619056 OMIM:616831 ORPHA:261197 ORPHA:48652 OMIM:606232 OMIM:607721 ORPHA:440713 ORPHA:171829 ORPHA:488437 ORPHA:59 OMIM:615182 ORPHA:93298 ORPHA:628 ORPHA:1782 ORPHA:168577 ORPHA:3342 OMIM:269250 OMIM:617013 OMIM:139210 ORPHA:99966 OMIM:241800 OMIM:257200 OMIM:615085 ORPHA:397709 OMIM:616354 ORPHA:500150 OMIM:617140 OMIM:610733 ORPHA:1513 OMIM:122860 OMIM:114290 ORPHA:140 OMIM:270420 ORPHA:137605 OMIM:611431 OMIM:619475 OMIM:619595 OMIM:611087 ORPHA:500533 OMIM:619714 OMIM:617757 ORPHA:585 OMIM:618786 OMIM:300491 ORPHA:85294 OMIM:619575 ORPHA:397973 OMIM:248000 OMIM:616900 ORPHA:488632 OMIM:301033 ORPHA:93333 ORPHA:1797 OMIM:618430 OMIM:259700 OMIM:618798 OMIM:301066 OMIM:614450 ORPHA:1394 OMIM:213980 OMIM:608091 OMIM:619727 OMIM:618316 ORPHA:2801 OMIM:239000 OMIM:619243 ORPHA:93357 OMIM:271510 ORPHA:2576 OMIM:618825 ORPHA:93299 OMIM:184260 ORPHA:467166 ORPHA:300570 OMIM:300860 ORPHA:163956 ORPHA:238446 OMIM:300676 ORPHA:500055 OMIM:300919 OMIM:619135 OMIM:613610 OMIM:615777 ORPHA:370930 OMIM:617302 OMIM:259050 OMIM:616248 OMIM:619769 OMIM:229200 OMIM:617865

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen