Human Phenotype Ontology

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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:
Neurodevelopmental abnormality (HP:0012759)

Parent Node:
Neurodevelopmental delay (HP:0012758)

..Starting node
..Global developmental delay (HP:0001263)

Term ID:

1263

Name:

Global developmental delay

Synonym:

Cognitive delay; Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; Lack of psychomotor development; Mental and motor retardation; Motor and developmental delay; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development

Definition:

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

Comments:

Reference:

HP:0001263

Genes and Diseases:

Child Nodes:

........

Mild global developmental delay (HP:0011342)

........

Moderate global developmental delay (HP:0011343)

........

Severe global developmental delay (HP:0011344)

........

Profound global developmental delay (HP:0012736)

Sister Nodes:

Delayed social development (HP:0012434)

Delayed speech and language development (HP:0000750)

Motor delay (HP:0001270)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001263	HP:0001263	Global developmental delay	0	AAAS CL E G H	8086	231550	Glucocorticoid deficiency with achalasia	231550	C0271742	OMIM	1	79	81	13666	605378
HP:0001263	HP:0001263	Global developmental delay	0	AARS CL E G H	16	442835				ORPHA	1	21		20	601065
HP:0001263	HP:0001263	Global developmental delay	0	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1	21		20	601065
HP:0001263	HP:0001263	Global developmental delay	0	ABAT CL E G H	18	613163	Gamma-aminobutyric acid transaminase deficiency	613163	C0342708	OMIM	1	12	269	23	137150
HP:0001263	HP:0001263	Global developmental delay	0	ABCB7 CL E G H	22	2802				ORPHA	1	9	195	48	300135
HP:0001263	HP:0001263	Global developmental delay	0	ABCC8 CL E G H	6833	99885				ORPHA	1	661	546	59	600509
HP:0001263	HP:0001263	Global developmental delay	0	ABCC8 CL E G H	6833	99886				ORPHA	1	661	546	59	600509
HP:0001263	HP:0001263	Global developmental delay	0	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	661	546	59	600509
HP:0001263	HP:0001263	Global developmental delay	0	ABHD5 CL E G H	51099	98907				ORPHA	1	39	115	21396	604780
HP:0001263	HP:0001263	Global developmental delay	0	ACADM CL E G H	34	201450	Medium-chain acyl-coenzyme A dehydrogenase deficiency	201450	C0220710	OMIM	1	171	336	89	607008
HP:0001263	HP:0001263	Global developmental delay	0	ACADS CL E G H	35	201470	Deficiency of butyryl-CoA dehydrogenase	201470	C0342783	OMIM	1	85	173	90	606885
HP:0001263	HP:0001263	Global developmental delay	0	ACADSB CL E G H	36	610006	Deficiency of 2-methylbutyryl-CoA dehydrogenase	610006	C1864912	OMIM	1	15	183	91	600301
HP:0001263	HP:0001263	Global developmental delay	0	ACAT2 CL E G H	39	614055	Acetyl-CoA acetyltransferase-2 deficiency	614055	C0342735	OMIM	1		31	94	100678
HP:0001263	HP:0001263	Global developmental delay	0	ACD CL E G H	65057	3322				ORPHA	1	9	95	25070	609377
HP:0001263	HP:0001263	Global developmental delay	0	ACD CL E G H	65057	616553	Dyskeratosis congenita, autosomal dominant 6	616553	C4225284	OMIM	1	9	95	25070	609377
HP:0001263	HP:0001263	Global developmental delay	0	ACOX1 CL E G H	51	2971				ORPHA	1	26	184	119	609751
HP:0001263	HP:0001263	Global developmental delay	0	ACOX2 CL E G H	8309	617308	Bile acid synthesis defect, congenital, 6	617308	C4310624	OMIM	1	5	37	120	601641
HP:0001263	HP:0001263	Global developmental delay	0	ACSF3 CL E G H	197322	614265	Combined malonic and methylmalonic aciduria	614265	C3280314	OMIM	1	22	244	27288	614245
HP:0001263	HP:0001263	Global developmental delay	0	ACTA1 CL E G H	58	97240				ORPHA	1	217	228	129	102610
HP:0001263	HP:0001263	Global developmental delay	0	ACTB CL E G H	60	79107				ORPHA	1	65	207	132	102630
HP:0001263	HP:0001263	Global developmental delay	0	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	65	207	132	102630
HP:0001263	HP:0001263	Global developmental delay	0	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	65	207	132	102630
HP:0001263	HP:0001263	Global developmental delay	0	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	48	254	144	102560
HP:0001263	HP:0001263	Global developmental delay	0	ACY1 CL E G H	95	609924	Aminoacylase 1 deficiency	609924	C1835922	OMIM	1	15	53	177	104620
HP:0001263	HP:0001263	Global developmental delay	0	ADAMTSL2 CL E G H	9719	231050	Geleophysic dysplasia 1	231050	C3278147	OMIM	1	28	134	14631	612277
HP:0001263	HP:0001263	Global developmental delay	0	ADAR CL E G H	103	51				ORPHA	1	229	224	225	146920
HP:0001263	HP:0001263	Global developmental delay	0	ADAR CL E G H	103	615010	Aicardi-Goutieres syndrome 6	615010	C3539013	OMIM	1	229	224	225	146920
HP:0001263	HP:0001263	Global developmental delay	0	ADD3 CL E G H	120	617008	Cerebral palsy, spastic quadriplegic, 3	617008	C4310767	OMIM	1	8	46	245	601568
HP:0001263	HP:0001263	Global developmental delay	0	ADK CL E G H	132	614300	Hypermethioninemia due to adenosine kinase deficiency	614300	C3280381	OMIM	1	15	53	257	102750
HP:0001263	HP:0001263	Global developmental delay	0	ADNP CL E G H	23394	615873	Helsmoortel-van der aa syndrome	615873	C4014538	OMIM	1	68	157	15766	611386
HP:0001263	HP:0001263	Global developmental delay	0	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	58	229	291	608222
HP:0001263	HP:0001263	Global developmental delay	0	AFF4 CL E G H	27125	616368	Chops syndrome	616368	C4085597	OMIM	1	3	62	17869	604417
HP:0001263	HP:0001263	Global developmental delay	0	AGTPBP1 CL E G H	23287	618276	618276	618276		OMIM	1	1	48	17258	606830
HP:0001263	HP:0001263	Global developmental delay	0	AHCY CL E G H	191	88618				ORPHA	1	15	76	343	180960
HP:0001263	HP:0001263	Global developmental delay	0	AHCY CL E G H	191	613752	Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency	613752	C3151058	OMIM	1	15	76	343	180960
HP:0001263	HP:0001263	Global developmental delay	0	AHDC1 CL E G H	27245	615829	Xia-Gibbs syndrome	615829	C4014419	OMIM	1	34	169	25230	615790
HP:0001263	HP:0001263	Global developmental delay	0	AHI1 CL E G H	54806	220493				ORPHA	1	96	303	21575	608894
HP:0001263	HP:0001263	Global developmental delay	0	AHI1 CL E G H	54806	475	Acquired hypoprothrombinemia			ORPHA	1	96	303	21575	608894
HP:0001263	HP:0001263	Global developmental delay	0	AIFM1 CL E G H	9131	300816	Combined oxidative phosphorylation deficiency 6	300816	C3151753	OMIM	1	33	299	8768	300169
HP:0001263	HP:0001263	Global developmental delay	0	AIMP1 CL E G H	9255	260600	Leukodystrophy, hypomyelinating 3	260600	C1850053	OMIM	1	5	34	10648	603605
HP:0001263	HP:0001263	Global developmental delay	0	AKT1 CL E G H	207	201				ORPHA	1	12	228	391	164730
HP:0001263	HP:0001263	Global developmental delay	0	ALDH18A1 CL E G H	5832	35664				ORPHA	1	33	213	9722	138250
HP:0001263	HP:0001263	Global developmental delay	0	ALDH18A1 CL E G H	5832	616603	Cutis laxa, autosomal dominant 3	616603	C4225268	OMIM	1	33	213	9722	138250
HP:0001263	HP:0001263	Global developmental delay	0	ALDH18A1 CL E G H	5832	219150	Cutis laxa-corneal clouding-oligophrenia syndrome	219150	C0268354	OMIM	1	33	213	9722	138250
HP:0001263	HP:0001263	Global developmental delay	0	ALDH18A1 CL E G H	5832	616586	Spastic paraplegia 9b, autosomal recessive	616586	C4225272	OMIM	1	33	213	9722	138250
HP:0001263	HP:0001263	Global developmental delay	0	ALDH5A1 CL E G H	7915	22	AFib amyloidosis		CN244920	ORPHA	1	75	238	408	610045
HP:0001263	HP:0001263	Global developmental delay	0	ALDH5A1 CL E G H	7915	271980	Succinate-semialdehyde dehydrogenase deficiency	271980	C0268631	OMIM	1	75	238	408	610045
HP:0001263	HP:0001263	Global developmental delay	0	ALDH6A1 CL E G H	4329	614105	Methylmalonate semialdehyde dehydrogenase deficiency	614105	C3279840	OMIM	1	6	69	7179	603178
HP:0001263	HP:0001263	Global developmental delay	0	ALDH7A1 CL E G H	501	3006				ORPHA	1	129	397	877	107323
HP:0001263	HP:0001263	Global developmental delay	0	ALDH7A1 CL E G H	501	266100	Pyridoxine-dependent epilepsy	266100	C1849508	OMIM	1	129	397	877	107323
HP:0001263	HP:0001263	Global developmental delay	0	ALG1 CL E G H	56052	79327				ORPHA	1	44	157	18294	605907
HP:0001263	HP:0001263	Global developmental delay	0	ALG1 CL E G H	56052	608540	Congenital disorder of glycosylation type 1K	608540	C2931005	OMIM	1	44	157	18294	605907
HP:0001263	HP:0001263	Global developmental delay	0	ALG11 CL E G H	440138	613661	Congenital disorder of glycosylation type 1P	613661	C3150913	OMIM	1	14	119	32456	613666
HP:0001263	HP:0001263	Global developmental delay	0	ALG12 CL E G H	79087	607143	ALG12-congenital disorder of glycosylation	607143	C2931001	OMIM	1	16	221	19358	607144
HP:0001263	HP:0001263	Global developmental delay	0	ALG13 CL E G H	79868	300884	Epileptic encephalopathy, early infantile, 36	300884	C3550904	OMIM	1	14	406	30881	300776
HP:0001263	HP:0001263	Global developmental delay	0	ALG2 CL E G H	85365	607906	Congenital disorder of glycosylation type 1I	607906	C1842836	OMIM	1	5	140	23159	607905
HP:0001263	HP:0001263	Global developmental delay	0	ALG3 CL E G H	10195	79321				ORPHA	1	19	106	23056	608750
HP:0001263	HP:0001263	Global developmental delay	0	ALG3 CL E G H	10195	601110	Congenital disorder of glycosylation type 1D	601110	C1832736	OMIM	1	19	106	23056	608750
HP:0001263	HP:0001263	Global developmental delay	0	ALG6 CL E G H	29929	79320				ORPHA	1	26	161	23157	604566
HP:0001263	HP:0001263	Global developmental delay	0	ALG6 CL E G H	29929	603147	Congenital disorder of glycosylation type 1C	603147	C2930997	OMIM	1	26	161	23157	604566
HP:0001263	HP:0001263	Global developmental delay	0	ALG9 CL E G H	79796	608776	ALG9 congenital disorder of glycosylation	608776	C2931006	OMIM	1	4	133	15672	606941
HP:0001263	HP:0001263	Global developmental delay	0	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	316	1517	428	606844
HP:0001263	HP:0001263	Global developmental delay	0	ALX4 CL E G H	60529	52022				ORPHA	1	27	173	450	605420
HP:0001263	HP:0001263	Global developmental delay	0	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	18	83	469	102771
HP:0001263	HP:0001263	Global developmental delay	0	ANK1 CL E G H	286	251066				ORPHA	1	111	304	492	612641
HP:0001263	HP:0001263	Global developmental delay	0	ANKLE2 CL E G H	23141	2512				ORPHA	1	2	78	29101	616062
HP:0001263	HP:0001263	Global developmental delay	0	ANKLE2 CL E G H	23141	616681	Microcephaly 16, primary, autosomal recessive	616681	C4225249	OMIM	1	2	78	29101	616062
HP:0001263	HP:0001263	Global developmental delay	0	ANKRD11 CL E G H	29123	2332				ORPHA	1	134	614	21316	611192
HP:0001263	HP:0001263	Global developmental delay	0	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	134	614	21316	611192
HP:0001263	HP:0001263	Global developmental delay	0	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	2	31	559	603531
HP:0001263	HP:0001263	Global developmental delay	0	AP1S2 CL E G H	8905	85329				ORPHA	1	14	201	560	300629
HP:0001263	HP:0001263	Global developmental delay	0	AP1S2 CL E G H	8905	85335				ORPHA	1	14	201	560	300629
HP:0001263	HP:0001263	Global developmental delay	0	AP1S2 CL E G H	8905	304340	Pettigrew syndrome	304340	C0796254	OMIM	1	14	201	560	300629
HP:0001263	HP:0001263	Global developmental delay	0	AP3B2 CL E G H	8120	442835				ORPHA	1	12	88	567	602166
HP:0001263	HP:0001263	Global developmental delay	0	AP3B2 CL E G H	8120	617276	Epileptic encephalopathy, early infantile, 48	617276	C4310637	OMIM	1	12	88	567	602166
HP:0001263	HP:0001263	Global developmental delay	0	AP4B1 CL E G H	10717	280763				ORPHA	1	21	126	572	607245
HP:0001263	HP:0001263	Global developmental delay	0	AP4B1 CL E G H	10717	614066	Spastic paraplegia 47, autosomal recessive	614066	C3279738	OMIM	1	21	126	572	607245
HP:0001263	HP:0001263	Global developmental delay	0	AP4E1 CL E G H	23431	280763				ORPHA	1	18	161	573	607244
HP:0001263	HP:0001263	Global developmental delay	0	AP4E1 CL E G H	23431	613744	Spastic paraplegia 51, autosomal recessive	613744	C3151056	OMIM	1	18	161	573	607244
HP:0001263	HP:0001263	Global developmental delay	0	AP4M1 CL E G H	9179	280763				ORPHA	1	15	137	574	602296
HP:0001263	HP:0001263	Global developmental delay	0	AP4M1 CL E G H	9179	612936	Spastic paraplegia 50, autosomal recessive	612936	C2752008	OMIM	1	15	137	574	602296
HP:0001263	HP:0001263	Global developmental delay	0	AP4S1 CL E G H	11154	280763				ORPHA	1	8	58	575	607243
HP:0001263	HP:0001263	Global developmental delay	0	AP4S1 CL E G H	11154	614067	Spastic paraplegia 52, autosomal recessive	614067	C3279743	OMIM	1	8	58	575	607243
HP:0001263	HP:0001263	Global developmental delay	0	AP5Z1 CL E G H	9907	613647	Spastic paraplegia 48, autosomal recessive	613647	C3150901	OMIM	1	16	383	22197	613653
HP:0001263	HP:0001263	Global developmental delay	0	APC2 CL E G H	10297	821				ORPHA	1	3	154	24036	612034
HP:0001263	HP:0001263	Global developmental delay	0	APOPT1 CL E G H	84334	436271				ORPHA	1		90	20492	616003
HP:0001263	HP:0001263	Global developmental delay	0	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		90	20492	616003
HP:0001263	HP:0001263	Global developmental delay	0	APP CL E G H	351	324703				ORPHA	1	107	193	620	104760
HP:0001263	HP:0001263	Global developmental delay	0	ARFGEF2 CL E G H	10564	608097	Heterotopia, periventricular, autosomal recessive	608097	C1842563	OMIM	1	15	266	15853	605371
HP:0001263	HP:0001263	Global developmental delay	0	ARG1 CL E G H	383	90				ORPHA	1	74	116	663	608313
HP:0001263	HP:0001263	Global developmental delay	0	ARG1 CL E G H	383	207800	Arginase deficiency	207800	C0268548	OMIM	1	74	116	663	608313
HP:0001263	HP:0001263	Global developmental delay	0	ARHGAP31 CL E G H	57514	100300	Adams-Oliver syndrome 1	100300	CN028867	OMIM	1	7	198	29216	610911
HP:0001263	HP:0001263	Global developmental delay	0	ARID1A CL E G H	8289	1465				ORPHA	1	36	154	11110	603024
HP:0001263	HP:0001263	Global developmental delay	0	ARID1A CL E G H	8289	614607	Mental retardation, autosomal dominant 14	614607	C3553247	OMIM	1	36	154	11110	603024
HP:0001263	HP:0001263	Global developmental delay	0	ARID1B CL E G H	57492	1465				ORPHA	1	188	504	18040	614556
HP:0001263	HP:0001263	Global developmental delay	0	ARID1B CL E G H	57492	251056				ORPHA	1	188	504	18040	614556
HP:0001263	HP:0001263	Global developmental delay	0	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	188	504	18040	614556
HP:0001263	HP:0001263	Global developmental delay	0	ARID2 CL E G H	196528	1465				ORPHA	1	11	108	18037	609539
HP:0001263	HP:0001263	Global developmental delay	0	ARL13B CL E G H	200894	475	Acquired hypoprothrombinemia			ORPHA	1	10	117	25419	608922
HP:0001263	HP:0001263	Global developmental delay	0	ARL13B CL E G H	200894	612291	Joubert syndrome 8	612291	C2676771	OMIM	1	10	117	25419	608922
HP:0001263	HP:0001263	Global developmental delay	0	ARL3 CL E G H	403	475	Acquired hypoprothrombinemia			ORPHA	1	3	22	694	604695
HP:0001263	HP:0001263	Global developmental delay	0	ARL3 CL E G H	403	618161	JOUBERT SYNDROME 35	618161		OMIM	1	3	22	694	604695
HP:0001263	HP:0001263	Global developmental delay	0	ARMC9 CL E G H	80210	475	Acquired hypoprothrombinemia			ORPHA	1	11	60	20730	617612
HP:0001263	HP:0001263	Global developmental delay	0	ARMC9 CL E G H	80210	617622	JOUBERT SYNDROME 30	617622	C4539937	OMIM	1	11	60	20730	617612
HP:0001263	HP:0001263	Global developmental delay	0	ARNT2 CL E G H	9915	615926	Webb-Dattani syndrome	615926	C4014708	OMIM	1	6	46	16876	606036
HP:0001263	HP:0001263	Global developmental delay	0	ARSE CL E G H	415	302950	Chondrodysplasia punctata 1, X-linked recessive	302950	C1844853	OMIM	1	46		719	300180
HP:0001263	HP:0001263	Global developmental delay	0	ARV1 CL E G H	64801	442835				ORPHA	1	3	49	29561	611647
HP:0001263	HP:0001263	Global developmental delay	0	ARV1 CL E G H	64801	617020	Epileptic encephalopathy, early infantile, 38	617020	C4310762	OMIM	1	3	49	29561	611647
HP:0001263	HP:0001263	Global developmental delay	0	ARVCF CL E G H	421	567				ORPHA	1	2	462	728	602269
HP:0001263	HP:0001263	Global developmental delay	0	ARX CL E G H	170302	452				ORPHA	1	98	423	18060	300382
HP:0001263	HP:0001263	Global developmental delay	0	ARX CL E G H	170302	300004	Proud Levine Carpenter syndrome	300004	C0796124	OMIM	1	98	423	18060	300382
HP:0001263	HP:0001263	Global developmental delay	0	ASH1L CL E G H	55870	617796	MENTAL RETARDATION, AUTOSOMAL DOMINANT 52	617796	C4540478	OMIM	1	19	63	19088	607999
HP:0001263	HP:0001263	Global developmental delay	0	ASL CL E G H	435	207900	Argininosuccinate lyase deficiency	207900	C0268547	OMIM	1	169	221	746	608310
HP:0001263	HP:0001263	Global developmental delay	0	ASPA CL E G H	443	314911				ORPHA	1	102	164	756	608034
HP:0001263	HP:0001263	Global developmental delay	0	ASPM CL E G H	259266	2512				ORPHA	1	213	715	19048	605481
HP:0001263	HP:0001263	Global developmental delay	0	ASS1 CL E G H	445	215700	Citrullinemia type I	215700	C0175683	OMIM	1	157	279	758	603470
HP:0001263	HP:0001263	Global developmental delay	0	ASXL1 CL E G H	171023	97297				ORPHA	1	41	254	18318	612990
HP:0001263	HP:0001263	Global developmental delay	0	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	41	254	18318	612990
HP:0001263	HP:0001263	Global developmental delay	0	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	6	78	23805	612991
HP:0001263	HP:0001263	Global developmental delay	0	ATAD1 CL E G H	84896	618011	HYPEREKPLEXIA 4	618011	CN248518	OMIM	1	3	23	25903	614452
HP:0001263	HP:0001263	Global developmental delay	0	ATAD3A CL E G H	55210	496790				ORPHA	1	17	178	25567	612316
HP:0001263	HP:0001263	Global developmental delay	0	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	17	178	25567	612316
HP:0001263	HP:0001263	Global developmental delay	0	ATCAY CL E G H	85300	94122				ORPHA	1	3	113	779	608179
HP:0001263	HP:0001263	Global developmental delay	0	ATCAY CL E G H	85300	601238	Cerebellar ataxia, Cayman type	601238	C1832585	OMIM	1	3	113	779	608179
HP:0001263	HP:0001263	Global developmental delay	0	ATG5 CL E G H	9474	617584	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25	617584	C4539808	OMIM	1	5	29	589	604261
HP:0001263	HP:0001263	Global developmental delay	0	ATP1A1 CL E G H	476	618314	618314	618314		OMIM	1	14	31	799	182310
HP:0001263	HP:0001263	Global developmental delay	0	ATP1A3 CL E G H	478	614820	Alternating hemiplegia of childhood 2	614820	C3553788	OMIM	1	122	335	801	182350
HP:0001263	HP:0001263	Global developmental delay	0	ATP5F1D CL E G H	513	618120	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5	618120	CN253835	OMIM	1		40	837	603150
HP:0001263	HP:0001263	Global developmental delay	0	ATP6V0A2 CL E G H	23545	357074				ORPHA	1	56	247	18481	611716
HP:0001263	HP:0001263	Global developmental delay	0	ATP6V0A2 CL E G H	23545	2834				ORPHA	1	56	247	18481	611716
HP:0001263	HP:0001263	Global developmental delay	0	ATP6V1A CL E G H	523	442835				ORPHA	1	9	41	851	607027
HP:0001263	HP:0001263	Global developmental delay	0	ATP6V1A CL E G H	523	357074				ORPHA	1	9	41	851	607027
HP:0001263	HP:0001263	Global developmental delay	0	ATP6V1A CL E G H	523	618012	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3	618012	CN248521	OMIM	1	9	41	851	607027
HP:0001263	HP:0001263	Global developmental delay	0	ATP6V1E1 CL E G H	529	357074				ORPHA	1	2	76	857	108746
HP:0001263	HP:0001263	Global developmental delay	0	ATP7A CL E G H	538	198				ORPHA	1	357	548	869	300011
HP:0001263	HP:0001263	Global developmental delay	0	ATPAF2 CL E G H	91647	604273	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1	604273	C2700431	OMIM	1	2	168	18802	608918
HP:0001263	HP:0001263	Global developmental delay	0	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	170	580	886	300032
HP:0001263	HP:0001263	Global developmental delay	0	ATXN7 CL E G H	6314	94147				ORPHA	1	6	29	10560	607640
HP:0001263	HP:0001263	Global developmental delay	0	AUH CL E G H	549	67046				ORPHA	1	12	110	890	600529
HP:0001263	HP:0001263	Global developmental delay	0	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	62	222	14262	607270
HP:0001263	HP:0001263	Global developmental delay	0	B3GALNT2 CL E G H	148789	899				ORPHA	1	16	181	28596	610194
HP:0001263	HP:0001263	Global developmental delay	0	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	16	181	28596	610194
HP:0001263	HP:0001263	Global developmental delay	0	B3GALT6 CL E G H	126792	75496				ORPHA	1	40	219	17978	615291
HP:0001263	HP:0001263	Global developmental delay	0	B3GLCT CL E G H	145173	709				ORPHA	1	15	101	20207	610308
HP:0001263	HP:0001263	Global developmental delay	0	B3GLCT CL E G H	145173	261540	Peters plus syndrome	261540	C0796012	OMIM	1	15	101	20207	610308
HP:0001263	HP:0001263	Global developmental delay	0	B4GALT1 CL E G H	2683	607091	Congenital disorder of glycosylation type 2D	607091	C1846816	OMIM	1	2	164	924	137060
HP:0001263	HP:0001263	Global developmental delay	0	B4GALT7 CL E G H	11285	75496				ORPHA	1	9	131	930	604327
HP:0001263	HP:0001263	Global developmental delay	0	B4GALT7 CL E G H	11285	130070	Ehlers-Danlos syndrome progeroid type	130070	C1869122	OMIM	1	9	131	930	604327
HP:0001263	HP:0001263	Global developmental delay	0	B4GAT1 CL E G H	11041	899				ORPHA	1	7	76	15685	605517
HP:0001263	HP:0001263	Global developmental delay	0	B4GAT1 CL E G H	11041	615287	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13	615287	C3809042	OMIM	1	7	76	15685	605517
HP:0001263	HP:0001263	Global developmental delay	0	B9D1 CL E G H	27077	475	Acquired hypoprothrombinemia			ORPHA	1	10	146	24123	614144
HP:0001263	HP:0001263	Global developmental delay	0	B9D1 CL E G H	27077	617120	Joubert syndrome 27	617120	C4310706	OMIM	1	10	146	24123	614144
HP:0001263	HP:0001263	Global developmental delay	0	BBS1 CL E G H	582	209900	Bardet-Biedl syndrome 1	209900	C2936862	OMIM	1	105	222	966	209901
HP:0001263	HP:0001263	Global developmental delay	0	BCAP31 CL E G H	10134	300475	Chromosome Xq28 deletion syndrome	300475	C1845408	OMIM	1	9	238	16695	300398
HP:0001263	HP:0001263	Global developmental delay	0	BCL11A CL E G H	53335	617101	Intellectual developmental disorder with persistence of fetal hemoglobin	617101	C4310833	OMIM	1	32	76	13221	606557
HP:0001263	HP:0001263	Global developmental delay	0	BCL11B CL E G H	64919	617237	Immunodeficiency 49	617237	C4310656	OMIM	1	12	56	13222	606558
HP:0001263	HP:0001263	Global developmental delay	0	BCL11B CL E G H	64919	618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	618092	CN253429	OMIM	1	12	56	13222	606558
HP:0001263	HP:0001263	Global developmental delay	0	BCR CL E G H	613	261330				ORPHA	1	2	206	1014	151410
HP:0001263	HP:0001263	Global developmental delay	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	37	164	1020	603647
HP:0001263	HP:0001263	Global developmental delay	0	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	37	164	1020	603647
HP:0001263	HP:0001263	Global developmental delay	0	BMP2 CL E G H	650	261295				ORPHA	1	37	63	1069	112261
HP:0001263	HP:0001263	Global developmental delay	0	BMP4 CL E G H	652	139471				ORPHA	1	48	76	1071	112262
HP:0001263	HP:0001263	Global developmental delay	0	BMPER CL E G H	168667	608022	Diaphanospondylodysostosis	608022	C1842691	OMIM	1	19	110	24154	608699
HP:0001263	HP:0001263	Global developmental delay	0	BOLA3 CL E G H	388962	614299	Multiple mitochondrial dysfunctions syndrome 2	614299	C3280378	OMIM	1	6	39	24415	613183
HP:0001263	HP:0001263	Global developmental delay	0	BPTF CL E G H	2186	617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES	617755	C4540327	OMIM	1	14	65	3581	601819
HP:0001263	HP:0001263	Global developmental delay	0	BRAF CL E G H	673	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	68	434	1097	164757
HP:0001263	HP:0001263	Global developmental delay	0	BRAT1 CL E G H	221927	618056	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES	618056	CN252657	OMIM	1	18	370	21701	614506
HP:0001263	HP:0001263	Global developmental delay	0	BRAT1 CL E G H	221927	614498	Rigidity and multifocal seizure syndrome, lethal neonatal	614498	C3281029	OMIM	1	18	370	21701	614506
HP:0001263	HP:0001263	Global developmental delay	0	BRCA1 CL E G H	672	84				ORPHA	1	2824	8142	1100	113705
HP:0001263	HP:0001263	Global developmental delay	0	BRCA1 CL E G H	672	617883	FANCONI ANEMIA, COMPLEMENTATION GROUP S	617883	CN850168	OMIM	1	2824	8142	1100	113705
HP:0001263	HP:0001263	Global developmental delay	0	BRCA2 CL E G H	675	84				ORPHA	1	3025	11674	1101	600185
HP:0001263	HP:0001263	Global developmental delay	0	BRF1 CL E G H	2972	616202	Cerebellofaciodental syndrome	616202	C4015495	OMIM	1	17	120	11551	604902
HP:0001263	HP:0001263	Global developmental delay	0	BRIP1 CL E G H	83990	84				ORPHA	1	202	2526	20473	605882
HP:0001263	HP:0001263	Global developmental delay	0	BRIP1 CL E G H	83990	609054	Fanconi anemia, complementation group J	609054	C1836860	OMIM	1	202	2526	20473	605882
HP:0001263	HP:0001263	Global developmental delay	0	BRPF1 CL E G H	7862	617333	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	C4310617	OMIM	1	18	98	14255	602410
HP:0001263	HP:0001263	Global developmental delay	0	BTD CL E G H	686	79241				ORPHA	1	248	367	1122	609019
HP:0001263	HP:0001263	Global developmental delay	0	BTD CL E G H	686	253260	Biotinidase deficiency	253260	C0220754	OMIM	1	248	367	1122	609019
HP:0001263	HP:0001263	Global developmental delay	0	BUB1 CL E G H	699	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	20	83	1148	602452
HP:0001263	HP:0001263	Global developmental delay	0	BUB1B CL E G H	701	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	29	246	1149	602860
HP:0001263	HP:0001263	Global developmental delay	0	BUB3 CL E G H	9184	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	6	49	1151	603719
HP:0001263	HP:0001263	Global developmental delay	0	C12orf57 CL E G H	113246	1777				ORPHA	1	8	97	29521	615140
HP:0001263	HP:0001263	Global developmental delay	0	C12orf57 CL E G H	113246	218340	Temtamy syndrome	218340	C1857512	OMIM	1	8	97	29521	615140
HP:0001263	HP:0001263	Global developmental delay	0	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1	11	87	26784	613541
HP:0001263	HP:0001263	Global developmental delay	0	CA2 CL E G H	760	2785				ORPHA	1	31	65	1373	611492
HP:0001263	HP:0001263	Global developmental delay	0	CACNA1A CL E G H	773	442835				ORPHA	1	251	1183	1388	601011
HP:0001263	HP:0001263	Global developmental delay	0	CACNA1A CL E G H	773	617106	Epileptic encephalopathy, early infantile, 42	617106	C4310716	OMIM	1	251	1183	1388	601011
HP:0001263	HP:0001263	Global developmental delay	0	CACNA1C CL E G H	775	601005	Timothy syndrome	601005	C1832916	OMIM	1	74	1246	1390	114205
HP:0001263	HP:0001263	Global developmental delay	0	CACNA1D CL E G H	776	369929				ORPHA	1	11	191	1391	114206
HP:0001263	HP:0001263	Global developmental delay	0	CACNA1D CL E G H	776	615474	Primary aldosteronism, seizures, and neurologic abnormalities	615474	C3809609	OMIM	1	11	191	1391	114206
HP:0001263	HP:0001263	Global developmental delay	0	CACNA1G CL E G H	8913	618087	SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS	618087	CN252698	OMIM	1	12	153	1394	604065
HP:0001263	HP:0001263	Global developmental delay	0	CAD CL E G H	790	616457	Epileptic encephalopathy, early infantile, 50	616457	C4225320	OMIM	1	12	140	1424	114010
HP:0001263	HP:0001263	Global developmental delay	0	CAMK2A CL E G H	815	617798	MENTAL RETARDATION, AUTOSOMAL DOMINANT 53	617798	C4540481	OMIM	1	16	30	1460	114078
HP:0001263	HP:0001263	Global developmental delay	0	CAMK2A CL E G H	815	618095	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63	618095	CN253430	OMIM	1	16	30	1460	114078
HP:0001263	HP:0001263	Global developmental delay	0	CAMKMT CL E G H	79823	163693				ORPHA	1		31	26276	609559
HP:0001263	HP:0001263	Global developmental delay	0	CAMTA1 CL E G H	23261	314647				ORPHA	1	11	205	18806	611501
HP:0001263	HP:0001263	Global developmental delay	0	CAMTA1 CL E G H	23261	614756	Cerebellar ataxia, nonprogressive, with mental retardation	614756	C3553661	OMIM	1	11	205	18806	611501
HP:0001263	HP:0001263	Global developmental delay	0	CARS2 CL E G H	79587	616672	Combined oxidative phosphorylation deficiency 27	616672	C4225251	OMIM	1	4	264	25695	612800
HP:0001263	HP:0001263	Global developmental delay	0	CASK CL E G H	8573	300422	FG syndrome 4	300422	CN033933	OMIM	1	119	404	1497	300172
HP:0001263	HP:0001263	Global developmental delay	0	CASK CL E G H	8573	300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	300749	C2677903	OMIM	1	119	404	1497	300172
HP:0001263	HP:0001263	Global developmental delay	0	CBL CL E G H	867	613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	613563	C3150803	OMIM	1	43	491	1541	165360
HP:0001263	HP:0001263	Global developmental delay	0	CBS CL E G H	875	236200	Homocystinuria due to CBS deficiency	236200	C3150344	OMIM	1	214	556	1550	613381
HP:0001263	HP:0001263	Global developmental delay	0	CC2D1A CL E G H	54862	608443	Mental retardation, autosomal recessive 3	608443	C1838023	OMIM	1	7	141	30237	610055
HP:0001263	HP:0001263	Global developmental delay	0	CC2D2A CL E G H	57545	2318				ORPHA	1	96	480	29253	612013
HP:0001263	HP:0001263	Global developmental delay	0	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	96	480	29253	612013
HP:0001263	HP:0001263	Global developmental delay	0	CCDC174 CL E G H	51244	616816	Hypotonia, infantile, with psychomotor retardation	616816	C4225196	OMIM	1	1	41	28033	616735
HP:0001263	HP:0001263	Global developmental delay	0	CCDC22 CL E G H	28952	300963	Ritscher-schinzel syndrome 2	300963	C4225419	OMIM	1	7	211	28909	300859
HP:0001263	HP:0001263	Global developmental delay	0	CCDC22 CL E G H	28952	7	Typical Joubert syndrome MRI findings		CN228298	ORPHA	1	7	211	28909	300859
HP:0001263	HP:0001263	Global developmental delay	0	CCDC88A CL E G H	55704	617507	PEHO-like syndrome	617507	C1850056	OMIM	1	4	55	25523	609736
HP:0001263	HP:0001263	Global developmental delay	0	CCND2 CL E G H	894	615938	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	615938	C4014742	OMIM	1	11	83	1583	123833
HP:0001263	HP:0001263	Global developmental delay	0	CCNK CL E G H	8812	618147	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES	618147		OMIM	1		30	1596	603544
HP:0001263	HP:0001263	Global developmental delay	0	CD96 CL E G H	10225	211750	C syndrome	211750	C0796095	OMIM	1	3	109	16892	606037
HP:0001263	HP:0001263	Global developmental delay	0	CDC45 CL E G H	8318	617063	Meier-gorlin syndrome 7	617063	C4310738	OMIM	1	19	378	1739	603465
HP:0001263	HP:0001263	Global developmental delay	0	CDCA7 CL E G H	83879	2268				ORPHA	1	6	44	14628	609937
HP:0001263	HP:0001263	Global developmental delay	0	CDCA7 CL E G H	83879	616910	Immunodeficiency-centromeric instability-facial anomalies syndrome 3	616910	C4310799	OMIM	1	6	44	14628	609937
HP:0001263	HP:0001263	Global developmental delay	0	CDH11 CL E G H	1009	211380	Brachioskeletogenital syndrome	211380	C0809936	OMIM	1	10	37	1750	600023
HP:0001263	HP:0001263	Global developmental delay	0	CDH23 CL E G H	64072	231169				ORPHA	1	361	1127	13733	605516
HP:0001263	HP:0001263	Global developmental delay	0	CDK10 CL E G H	8558	617694	AL KAISSI SYNDROME	617694	C4540156	OMIM	1	7	64	1770	603464
HP:0001263	HP:0001263	Global developmental delay	0	CDK13 CL E G H	8621	617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	617360	C4479246	OMIM	1	22	112	1733	603309
HP:0001263	HP:0001263	Global developmental delay	0	CDK5 CL E G H	1020	616342	Lissencephaly 7 with cerebellar hypoplasia	616342	C4225359	OMIM	1	5	72	1774	123831
HP:0001263	HP:0001263	Global developmental delay	0	CDK5RAP2 CL E G H	55755	2512				ORPHA	1	23	291	18672	608201
HP:0001263	HP:0001263	Global developmental delay	0	CDK5RAP2 CL E G H	55755	604804	Primary autosomal recessive microcephaly 3	604804	C1858108	OMIM	1	23	291	18672	608201
HP:0001263	HP:0001263	Global developmental delay	0	CDK6 CL E G H	1021	2512				ORPHA	1	1	32	1777	603368
HP:0001263	HP:0001263	Global developmental delay	0	CDKL5 CL E G H	6792	300672	Early infantile epileptic encephalopathy 2	300672	C1839333	OMIM	1	388	924	11411	300203
HP:0001263	HP:0001263	Global developmental delay	0	CDON CL E G H	50937	614226	Holoprosencephaly 11	614226	C3280215	OMIM	1	13	314	17104	608707
HP:0001263	HP:0001263	Global developmental delay	0	CENPJ CL E G H	55835	2512				ORPHA	1	10	250	17272	609279
HP:0001263	HP:0001263	Global developmental delay	0	CEP104 CL E G H	9731	475	Acquired hypoprothrombinemia			ORPHA	1	7	135	24866	616690
HP:0001263	HP:0001263	Global developmental delay	0	CEP120 CL E G H	153241	220493				ORPHA	1	9	76	26690	613446
HP:0001263	HP:0001263	Global developmental delay	0	CEP120 CL E G H	153241	475	Acquired hypoprothrombinemia			ORPHA	1	9	76	26690	613446
HP:0001263	HP:0001263	Global developmental delay	0	CEP120 CL E G H	153241	617761	JOUBERT SYNDROME 31	617761	C4540355	OMIM	1	9	76	26690	613446
HP:0001263	HP:0001263	Global developmental delay	0	CEP135 CL E G H	9662	2512				ORPHA	1	4	84	29086	611423
HP:0001263	HP:0001263	Global developmental delay	0	CEP152 CL E G H	22995	2512				ORPHA	1	20	221	29298	613529
HP:0001263	HP:0001263	Global developmental delay	0	CEP164 CL E G H	22897	3156				ORPHA	1	9	134	29182	614848
HP:0001263	HP:0001263	Global developmental delay	0	CEP290 CL E G H	80184	2318				ORPHA	1	310	645	29021	610142
HP:0001263	HP:0001263	Global developmental delay	0	CEP290 CL E G H	80184	3156				ORPHA	1	310	645	29021	610142
HP:0001263	HP:0001263	Global developmental delay	0	CEP290 CL E G H	80184	615991	Bardet-Biedl syndrome 14	615991	C2673874	OMIM	1	310	645	29021	610142
HP:0001263	HP:0001263	Global developmental delay	0	CEP41 CL E G H	95681	220493				ORPHA	1	11	144	12370	610523
HP:0001263	HP:0001263	Global developmental delay	0	CEP41 CL E G H	95681	475	Acquired hypoprothrombinemia			ORPHA	1	11	144	12370	610523
HP:0001263	HP:0001263	Global developmental delay	0	CEP41 CL E G H	95681	614464	Joubert syndrome 15	614464	C3280897	OMIM	1	11	144	12370	610523
HP:0001263	HP:0001263	Global developmental delay	0	CEP57 CL E G H	9702	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	5	96	30794	607951
HP:0001263	HP:0001263	Global developmental delay	0	CEP63 CL E G H	80254	2512				ORPHA	1	2	92	25815	614724
HP:0001263	HP:0001263	Global developmental delay	0	CEP63 CL E G H	80254	614728	Seckel syndrome 6	614728	C3553582	OMIM	1	2	92	25815	614724
HP:0001263	HP:0001263	Global developmental delay	0	CHAMP1 CL E G H	283489	616579	Mental retardation, autosomal dominant 40	616579	C4225275	OMIM	1	17	158	20311	616327
HP:0001263	HP:0001263	Global developmental delay	0	CHD1 CL E G H	1105	529965				ORPHA	1	8	37	1915	602118
HP:0001263	HP:0001263	Global developmental delay	0	CHD1 CL E G H	1105	617682	PILAROWSKI-BJORNSSON SYNDROME	617682	C4540131	OMIM	1	8	37	1915	602118
HP:0001263	HP:0001263	Global developmental delay	0	CHD2 CL E G H	1106	615369	Epileptic encephalopathy, childhood-onset	615369	C3809278	OMIM	1	60	652	1917	602119
HP:0001263	HP:0001263	Global developmental delay	0	CHD3 CL E G H	1107	618205	SNIJDERS BLOK-CAMPEAU SYNDROME	618205		OMIM	1	10	63	1918	602120
HP:0001263	HP:0001263	Global developmental delay	0	CHD7 CL E G H	55636	138				ORPHA	1	884	1025	20626	608892
HP:0001263	HP:0001263	Global developmental delay	0	CHMP1A CL E G H	5119	614961	Pontocerebellar hypoplasia type 8	614961	C3554209	OMIM	1	3	102	8740	164010
HP:0001263	HP:0001263	Global developmental delay	0	CHRNA7 CL E G H	1139	199318				ORPHA	1	57	296	1960	118511
HP:0001263	HP:0001263	Global developmental delay	0	CHST14 CL E G H	113189	601776	Ehlers-Danlos syndrome, musculocontractural type	601776	C1866294	OMIM	1	22	84	24464	608429
HP:0001263	HP:0001263	Global developmental delay	0	CIB2 CL E G H	10518	231169				ORPHA	1	18	51	24579	605564
HP:0001263	HP:0001263	Global developmental delay	0	CIC CL E G H	23152	617600	MENTAL RETARDATION, AUTOSOMAL DOMINANT 45	617600	C4539848	OMIM	1	10	106	14214	612082
HP:0001263	HP:0001263	Global developmental delay	0	CIT CL E G H	11113	2512				ORPHA	1	15	110	1985	605629
HP:0001263	HP:0001263	Global developmental delay	0	CIT CL E G H	11113	617090	Microcephaly 17, primary, autosomal recessive	617090	C4310723	OMIM	1	15	110	1985	605629
HP:0001263	HP:0001263	Global developmental delay	0	CKAP2L CL E G H	150468	3255	Limb scalp and skull defects			ORPHA	1	7	42	26877	616174
HP:0001263	HP:0001263	Global developmental delay	0	CLCN4 CL E G H	1183	300114	Mental retardation 49, X-linked	300114	C3887959	OMIM	1	18	302	2022	302910
HP:0001263	HP:0001263	Global developmental delay	0	CLIC2 CL E G H	1193	300886	Mental retardation, X-linked, syndromic 32	300886	C3550913	OMIM	1	3	234	2063	300138
HP:0001263	HP:0001263	Global developmental delay	0	CLP1 CL E G H	10978	411493				ORPHA	1	2	32	16999	608757
HP:0001263	HP:0001263	Global developmental delay	0	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	2	32	16999	608757
HP:0001263	HP:0001263	Global developmental delay	0	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	25	170	30664	616254
HP:0001263	HP:0001263	Global developmental delay	0	CLTC CL E G H	1213	442835				ORPHA	1	14	55	2092	118955
HP:0001263	HP:0001263	Global developmental delay	0	CLTC CL E G H	1213	617854	MENTAL RETARDATION, AUTOSOMAL DOMINANT 56	617854	CN787270	OMIM	1	14	55	2092	118955
HP:0001263	HP:0001263	Global developmental delay	0	CNKSR2 CL E G H	22866	442835				ORPHA	1	6	205	19701	300724
HP:0001263	HP:0001263	Global developmental delay	0	CNKSR2 CL E G H	22866	301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE	301008	C4538788	OMIM	1	6	205	19701	300724
HP:0001263	HP:0001263	Global developmental delay	0	CNNM2 CL E G H	54805	616418	Hypomagnesemia, seizures, and mental retardation	616418	C4225333	OMIM	1	7	106	103	607803
HP:0001263	HP:0001263	Global developmental delay	0	CNTNAP2 CL E G H	26047	610042	Pitt-Hopkins-like syndrome 1	610042	C2750246	OMIM	1	78	900	13830	604569
HP:0001263	HP:0001263	Global developmental delay	0	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	7	19	25716	615623
HP:0001263	HP:0001263	Global developmental delay	0	COASY CL E G H	80347	615643	Neurodegeneration with brain iron accumulation 6	615643	C3810230	OMIM	1	3	68	29932	609855
HP:0001263	HP:0001263	Global developmental delay	0	COG1 CL E G H	9382	611209	COG1 congenital disorder of glycosylation	611209	C1970016	OMIM	1	3	106	6545	606973
HP:0001263	HP:0001263	Global developmental delay	0	COG2 CL E G H	22796	435934				ORPHA	1	2	87	6546	606974
HP:0001263	HP:0001263	Global developmental delay	0	COG2 CL E G H	22796	617395	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq	617395	C4479353	OMIM	1	2	87	6546	606974
HP:0001263	HP:0001263	Global developmental delay	0	COG4 CL E G H	25839	263501				ORPHA	1	6	150	18620	606976
HP:0001263	HP:0001263	Global developmental delay	0	COG4 CL E G H	25839	618150	SAUL-WILSON SYNDROME	618150		OMIM	1	6	150	18620	606976
HP:0001263	HP:0001263	Global developmental delay	0	COG6 CL E G H	57511	614576	Congenital disorder of glycosylation type 2L	614576	C3553230	OMIM	1	10	153	18621	606977
HP:0001263	HP:0001263	Global developmental delay	0	COL3A1 CL E G H	1281	286	Imaizumi Kuroki syndrome			ORPHA	1	645	1244	2201	120180
HP:0001263	HP:0001263	Global developmental delay	0	COL4A1 CL E G H	1282	899				ORPHA	1	114	428	2202	120130
HP:0001263	HP:0001263	Global developmental delay	0	COL4A2 CL E G H	1284	614483	Porencephaly 2	614483	C3280970	OMIM	1	14	332	2203	120090
HP:0001263	HP:0001263	Global developmental delay	0	COL4A3BP CL E G H	10087	616351	Mental retardation, autosomal dominant 34	616351	C4225156	OMIM	1	8		2205	604677
HP:0001263	HP:0001263	Global developmental delay	0	COL5A1 CL E G H	1289	286	Imaizumi Kuroki syndrome			ORPHA	1	159	1481	2209	120215
HP:0001263	HP:0001263	Global developmental delay	0	COLEC11 CL E G H	78989	265050	Carnevale syndrome	265050	C0796279	OMIM	1	13	56	17213	612502
HP:0001263	HP:0001263	Global developmental delay	0	COLQ CL E G H	8292	98915				ORPHA	1	70	208	2226	603033
HP:0001263	HP:0001263	Global developmental delay	0	COMT CL E G H	1312	567				ORPHA	1	15	541	2228	116790
HP:0001263	HP:0001263	Global developmental delay	0	COPB2 CL E G H	9276	2512				ORPHA	1	4	30	2232	606990
HP:0001263	HP:0001263	Global developmental delay	0	COPB2 CL E G H	9276	617800	MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE	617800	C4540488	OMIM	1	4	30	2232	606990
HP:0001263	HP:0001263	Global developmental delay	0	COQ7 CL E G H	10229	616733	Coenzyme Q10 deficiency, primary, 8	616733	C4225226	OMIM	1	5	45	2244	601683
HP:0001263	HP:0001263	Global developmental delay	0	COQ9 CL E G H	57017	614654	Coenzyme Q10 deficiency, primary, 5	614654	C3553374	OMIM	1	5	86	25302	612837
HP:0001263	HP:0001263	Global developmental delay	0	CORO1A CL E G H	11151	615401	Immunodeficiency 8	615401	C3809383	OMIM	1	7	196	2252	605000
HP:0001263	HP:0001263	Global developmental delay	0	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	13	182	2260	602125
HP:0001263	HP:0001263	Global developmental delay	0	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	13	182	2260	602125
HP:0001263	HP:0001263	Global developmental delay	0	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	1	14	28216	614478
HP:0001263	HP:0001263	Global developmental delay	0	COX15 CL E G H	1355	255241				ORPHA	1	5	145	2263	603646
HP:0001263	HP:0001263	Global developmental delay	0	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	5	145	2263	603646
HP:0001263	HP:0001263	Global developmental delay	0	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	1	126	26970	614698
HP:0001263	HP:0001263	Global developmental delay	0	COX4I2 CL E G H	84701	612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis	612714	C2675184	OMIM	1	1	38	16232	607976
HP:0001263	HP:0001263	Global developmental delay	0	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	3	31	2280	124089
HP:0001263	HP:0001263	Global developmental delay	0	COX7B CL E G H	1349	300887	Linear skin defects with multiple congenital anomalies 2	300887	C3550921	OMIM	1	5	162	2291	300885
HP:0001263	HP:0001263	Global developmental delay	0	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	1	12	2294	123870
HP:0001263	HP:0001263	Global developmental delay	0	CPLANE1 CL E G H	65250	2754				ORPHA	1	118	496	25801	614571
HP:0001263	HP:0001263	Global developmental delay	0	CPLANE1 CL E G H	65250	475	Acquired hypoprothrombinemia			ORPHA	1	118	496	25801	614571
HP:0001263	HP:0001263	Global developmental delay	0	CPLANE1 CL E G H	65250	614615	Joubert syndrome 17	614615	C3553264	OMIM	1	118	496	25801	614571
HP:0001263	HP:0001263	Global developmental delay	0	CPLANE1 CL E G H	65250	277170	Orofaciodigital syndrome 6	277170	C2745997	OMIM	1	118	496	25801	614571
HP:0001263	HP:0001263	Global developmental delay	0	CPLX1 CL E G H	10815	352582				ORPHA	1	3	133	2309	605032
HP:0001263	HP:0001263	Global developmental delay	0	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	3	133	2309	605032
HP:0001263	HP:0001263	Global developmental delay	0	CPLX1 CL E G H	10815	617976	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63	617976	CN244926	OMIM	1	3	133	2309	605032
HP:0001263	HP:0001263	Global developmental delay	0	CPS1 CL E G H	1373	237300	Congenital hyperammonemia, type I	237300	C0751753	OMIM	1	276	355	2323	608307
HP:0001263	HP:0001263	Global developmental delay	0	CRBN CL E G H	51185	607417	Mental retardation, autosomal recessive 2	607417	C1843942	OMIM	1	6	108	30185	609262
HP:0001263	HP:0001263	Global developmental delay	0	CRKL CL E G H	1399	261330				ORPHA	1	16	358	2363	602007
HP:0001263	HP:0001263	Global developmental delay	0	CSNK2A1 CL E G H	1457	617062	Okur-chung neurodevelopmental syndrome	617062	C4310739	OMIM	1	20	91	2457	115440
HP:0001263	HP:0001263	Global developmental delay	0	CSPP1 CL E G H	79848	475	Acquired hypoprothrombinemia			ORPHA	1	27	173	26193	611654
HP:0001263	HP:0001263	Global developmental delay	0	CSPP1 CL E G H	79848	615636	Joubert syndrome 21	615636	C3810212	OMIM	1	27	173	26193	611654
HP:0001263	HP:0001263	Global developmental delay	0	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	1	155	2494	602618
HP:0001263	HP:0001263	Global developmental delay	0	CTC1 CL E G H	80169	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	34	348	26169	613129
HP:0001263	HP:0001263	Global developmental delay	0	CTCF CL E G H	10664	615502	Mental retardation, autosomal dominant 21	615502	C3809686	OMIM	1	18	87	13723	604167
HP:0001263	HP:0001263	Global developmental delay	0	CTDP1 CL E G H	9150	48431				ORPHA	1	1	243	2498	604927
HP:0001263	HP:0001263	Global developmental delay	0	CTDP1 CL E G H	9150	604168	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	604168	C1858726	OMIM	1	1	243	2498	604927
HP:0001263	HP:0001263	Global developmental delay	0	CTNNA2 CL E G H	1496	618174	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9	618174		OMIM	1	6	44	2510	114025
HP:0001263	HP:0001263	Global developmental delay	0	CTNNB1 CL E G H	1499	615075	Mental retardation, autosomal dominant 19	615075	C3554449	OMIM	1	54	163	2514	116806
HP:0001263	HP:0001263	Global developmental delay	0	CUX2 CL E G H	23316	618141	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67	618141		OMIM	1	3	39	19347	610648
HP:0001263	HP:0001263	Global developmental delay	0	CWC27 CL E G H	10283	250410	Retinitis pigmentosa with or without skeletal anomalies	250410	C1855188	OMIM	1	7	29	10664	617170
HP:0001263	HP:0001263	Global developmental delay	0	CWF19L1 CL E G H	55280	453521				ORPHA	1	5	48	25613	616120
HP:0001263	HP:0001263	Global developmental delay	0	CWF19L1 CL E G H	55280	616127	Spinocerebellar ataxia, autosomal recessive 17	616127	C4015301	OMIM	1	5	48	25613	616120
HP:0001263	HP:0001263	Global developmental delay	0	CXorf56 CL E G H	63932	301013	MENTAL RETARDATION, X-LINKED 107	301013	CN244560	OMIM	1	1	161	26239	301012
HP:0001263	HP:0001263	Global developmental delay	0	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	75	84	2873	613213
HP:0001263	HP:0001263	Global developmental delay	0	CYFIP2 CL E G H	26999	442835				ORPHA	1	3	29	13760	606323
HP:0001263	HP:0001263	Global developmental delay	0	CYP2U1 CL E G H	113612	320411				ORPHA	1	19	74	20582	610670
HP:0001263	HP:0001263	Global developmental delay	0	D2HGDH CL E G H	728294	600721	D-2-hydroxyglutaric aciduria 1	600721	C3152055	OMIM	1	33	243	28358	609186
HP:0001263	HP:0001263	Global developmental delay	0	DAG1 CL E G H	1605	899				ORPHA	1	11	262	2666	128239
HP:0001263	HP:0001263	Global developmental delay	0	DAG1 CL E G H	1605	613818	Limb-girdle muscular dystrophy-dystroglycanopathy, type C9	613818	C3151184	OMIM	1	11	262	2666	128239
HP:0001263	HP:0001263	Global developmental delay	0	DAG1 CL E G H	1605	616538	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9	616538	C4225291	OMIM	1	11	262	2666	128239
HP:0001263	HP:0001263	Global developmental delay	0	DCC CL E G H	1630	617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2	617542	C4479640	OMIM	1	41	121	2701	120470
HP:0001263	HP:0001263	Global developmental delay	0	DCPS CL E G H	28960	616459	AL-RAQAD SYNDROME	616459	C4085595	OMIM	1	2	93	29812	610534
HP:0001263	HP:0001263	Global developmental delay	0	DDC CL E G H	1644	608643	Deficiency of aromatic-L-amino-acid decarboxylase	608643	C1291564	OMIM	1	59	85	2719	107930
HP:0001263	HP:0001263	Global developmental delay	0	DDHD2 CL E G H	23259	320380				ORPHA	1	19	143	29106	615003
HP:0001263	HP:0001263	Global developmental delay	0	DDHD2 CL E G H	23259	615033	Spastic paraplegia 54, autosomal recessive	615033	C3539495	OMIM	1	19	143	29106	615003
HP:0001263	HP:0001263	Global developmental delay	0	DDOST CL E G H	1650	614507	Congenital disorder of glycosylation type Ir	614507	C3281084	OMIM	1	2	121	2728	602202
HP:0001263	HP:0001263	Global developmental delay	0	DDR2 CL E G H	4921	271665	Spondylometaepiphyseal dysplasia short limb-hand type	271665	C1849011	OMIM	1	10	91	2731	191311
HP:0001263	HP:0001263	Global developmental delay	0	DDX11 CL E G H	1663	613398	Warsaw breakage syndrome	613398	C3150658	OMIM	1	7	94	2736	601150
HP:0001263	HP:0001263	Global developmental delay	0	DEAF1 CL E G H	10522	819				ORPHA	1	17	103	14677	602635
HP:0001263	HP:0001263	Global developmental delay	0	DEAF1 CL E G H	10522	617171	Dyskinesia, seizures, and intellectual developmental disorder	617171	C4310683	OMIM	1	17	103	14677	602635
HP:0001263	HP:0001263	Global developmental delay	0	DEAF1 CL E G H	10522	615828	Mental retardation, autosomal dominant 24	615828	C4014414	OMIM	1	17	103	14677	602635
HP:0001263	HP:0001263	Global developmental delay	0	DHCR7 CL E G H	1717	818				ORPHA	1	218	333	2860	602858
HP:0001263	HP:0001263	Global developmental delay	0	DHDDS CL E G H	79947	442835				ORPHA	1	8	86	20603	608172
HP:0001263	HP:0001263	Global developmental delay	0	DHFR CL E G H	1719	613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	613839	C3151205	OMIM	1	9	137	2861	126060
HP:0001263	HP:0001263	Global developmental delay	0	DHTKD1 CL E G H	55526	204750	2-aminoadipic 2-oxoadipic aciduria	204750	C1859817	OMIM	1	18	125	23537	614984
HP:0001263	HP:0001263	Global developmental delay	0	DHX30 CL E G H	22907	617804	NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE	617804	C4540496	OMIM	1	6	21	16716	616423
HP:0001263	HP:0001263	Global developmental delay	0	DIS3L2 CL E G H	129563	2849				ORPHA	1	14	624	28648	614184
HP:0001263	HP:0001263	Global developmental delay	0	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	14	624	28648	614184
HP:0001263	HP:0001263	Global developmental delay	0	DKC1 CL E G H	1736	3322				ORPHA	1	75	297	2890	300126
HP:0001263	HP:0001263	Global developmental delay	0	DKC1 CL E G H	1736	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	75	297	2890	300126
HP:0001263	HP:0001263	Global developmental delay	0	DLAT CL E G H	1737	245348	Pyruvate dehydrogenase E2 deficiency	245348	C1855565	OMIM	1	5	135	2896	608770
HP:0001263	HP:0001263	Global developmental delay	0	DLD CL E G H	1738	246900	Maple syrup urine disease, type 3	246900	CN043137	OMIM	1	23	169	2898	238331
HP:0001263	HP:0001263	Global developmental delay	0	DLG3 CL E G H	1741	300850	X-Linked mental retardation 90	300850	C3275443	OMIM	1	17	188	2902	300189
HP:0001263	HP:0001263	Global developmental delay	0	DMD CL E G H	1756	98896				ORPHA	1	3970	3190	2928	300377
HP:0001263	HP:0001263	Global developmental delay	0	DNA2 CL E G H	1763	615807	Seckel syndrome 8	615807	C3891452	OMIM	1	8	144	2939	601810
HP:0001263	HP:0001263	Global developmental delay	0	DNAJC21 CL E G H	134218	811	Balo disease			ORPHA	1	11	60	27030	617048
HP:0001263	HP:0001263	Global developmental delay	0	DNAJC21 CL E G H	134218	260400	Shwachman syndrome	260400	C0272170	OMIM	1	11	60	27030	617048
HP:0001263	HP:0001263	Global developmental delay	0	DNM1 CL E G H	1759	442835				ORPHA	1	31	280	2972	602377
HP:0001263	HP:0001263	Global developmental delay	0	DNM1L CL E G H	10059	614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	614388	C3280660	OMIM	1	20	222	2973	603850
HP:0001263	HP:0001263	Global developmental delay	0	DNMT3B CL E G H	1789	2268				ORPHA	1	57	196	2979	602900
HP:0001263	HP:0001263	Global developmental delay	0	DOCK3 CL E G H	1795	618292	618292	618292		OMIM	1	5	25	2989	603123
HP:0001263	HP:0001263	Global developmental delay	0	DOCK6 CL E G H	57572	614219	Adams-Oliver syndrome 2	614219	C3280182	OMIM	1	22	201	19189	614194
HP:0001263	HP:0001263	Global developmental delay	0	DOCK7 CL E G H	85440	615859	Epileptic encephalopathy, early infantile, 23	615859	C4014492	OMIM	1	7	305	19190	615730
HP:0001263	HP:0001263	Global developmental delay	0	DPAGT1 CL E G H	1798	86309				ORPHA	1	42	130	2995	191350
HP:0001263	HP:0001263	Global developmental delay	0	DPAGT1 CL E G H	1798	608093	Congenital disorder of glycosylation type 1J	608093	C2931004	OMIM	1	42	130	2995	191350
HP:0001263	HP:0001263	Global developmental delay	0	DPF2 CL E G H	5977	1465				ORPHA	1	9	13	9964	601671
HP:0001263	HP:0001263	Global developmental delay	0	DPF2 CL E G H	5977	618027	COFFIN-SIRIS SYNDROME 7	618027	CN248780	OMIM	1	9	13	9964	601671
HP:0001263	HP:0001263	Global developmental delay	0	DPH1 CL E G H	1801	616901	Developmental delay with short stature, dysmorphic features, and sparse hair	616901	C4310801	OMIM	1	6	91	3003	603527
HP:0001263	HP:0001263	Global developmental delay	0	DPM2 CL E G H	8818	615042	Congenital disorder of glycosylation type 1u	615042	C3554385	OMIM	1	2	78	3006	603564
HP:0001263	HP:0001263	Global developmental delay	0	DPYD CL E G H	1806	293948				ORPHA	1	124	247	3012	612779
HP:0001263	HP:0001263	Global developmental delay	0	DUOX2 CL E G H	50506	95716				ORPHA	1	185	221	13273	606759
HP:0001263	HP:0001263	Global developmental delay	0	DUOXA2 CL E G H	405753	95716				ORPHA	1	18	50	32698	612772
HP:0001263	HP:0001263	Global developmental delay	0	DVL1 CL E G H	1855	180700	Robinow syndrome	180700	C0265205	OMIM	1	19	233	3084	601365
HP:0001263	HP:0001263	Global developmental delay	0	DVL3 CL E G H	1857	180700	Robinow syndrome	180700	C0265205	OMIM	1	15	72	3087	601368
HP:0001263	HP:0001263	Global developmental delay	0	DYM CL E G H	54808	239				ORPHA	1	37	121	21317	607461
HP:0001263	HP:0001263	Global developmental delay	0	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	30	148	29419	612799
HP:0001263	HP:0001263	Global developmental delay	0	EBF3 CL E G H	253738	617330	Hypotonia, ataxia, and delayed development syndrome	617330	C4310618	OMIM	1	26	140	19087	607407
HP:0001263	HP:0001263	Global developmental delay	0	EBP CL E G H	10682	300960	MEND syndrome	300960	C4085243	OMIM	1	91	232	3133	300205
HP:0001263	HP:0001263	Global developmental delay	0	ECHS1 CL E G H	1892	255241				ORPHA	1	33	177	3151	602292
HP:0001263	HP:0001263	Global developmental delay	0	ECHS1 CL E G H	1892	616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	616277	C4225391	OMIM	1	33	177	3151	602292
HP:0001263	HP:0001263	Global developmental delay	0	EDNRB CL E G H	1910	277580	Waardenburg syndrome type 4A	277580	C1848519	OMIM	1	70	152	3180	131244
HP:0001263	HP:0001263	Global developmental delay	0	EED CL E G H	8726	3447				ORPHA	1	9	45	3188	605984
HP:0001263	HP:0001263	Global developmental delay	0	EED CL E G H	8726	617561	Cohen-Gibson syndrome	617561	C4479654	OMIM	1	9	45	3188	605984
HP:0001263	HP:0001263	Global developmental delay	0	EEF1A2 CL E G H	1917	442835				ORPHA	1	12	223	3192	602959
HP:0001263	HP:0001263	Global developmental delay	0	EEF1A2 CL E G H	1917	616409	Epileptic encephalopathy, early infantile, 33	616409	C4225337	OMIM	1	12	223	3192	602959
HP:0001263	HP:0001263	Global developmental delay	0	EEF1A2 CL E G H	1917	616393	Mental retardation, autosomal dominant 38	616393	C4225343	OMIM	1	12	223	3192	602959
HP:0001263	HP:0001263	Global developmental delay	0	EFL1 CL E G H	79631	811	Balo disease			ORPHA	1	3	56	25789	617538
HP:0001263	HP:0001263	Global developmental delay	0	EFNB1 CL E G H	1947	304110	Craniofrontonasal dysplasia	304110	C0220767	OMIM	1	118	174	3226	300035
HP:0001263	HP:0001263	Global developmental delay	0	EFTUD2 CL E G H	9343	610536	Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate	610536	C1864652	OMIM	1	101	107	30858	603892
HP:0001263	HP:0001263	Global developmental delay	0	EHMT1 CL E G H	79813	96147				ORPHA	1	94	632	24650	607001
HP:0001263	HP:0001263	Global developmental delay	0	EIF2AK3 CL E G H	9451	226980	Wolcott-Rallison dysplasia	226980	C0432217	OMIM	1	81	102	3255	604032
HP:0001263	HP:0001263	Global developmental delay	0	EIF4A3 CL E G H	9775	268305	Richieri Costa Pereira syndrome	268305	C1849348	OMIM	1	2	34	18683	608546
HP:0001263	HP:0001263	Global developmental delay	0	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	21	209	14198	605367
HP:0001263	HP:0001263	Global developmental delay	0	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	17	94	14415	605512
HP:0001263	HP:0001263	Global developmental delay	0	EML1 CL E G H	2009	600348	Band heterotopia	600348	C1838239	OMIM	1	7	65	3330	602033
HP:0001263	HP:0001263	Global developmental delay	0	EP300 CL E G H	2033	613684	Rubinstein-Taybi syndrome 2	613684	C3150941	OMIM	1	107	444	3373	602700
HP:0001263	HP:0001263	Global developmental delay	0	EPG5 CL E G H	57724	1493	Congenital mesoblastic nephroma			ORPHA	1	68	381	29331	615068
HP:0001263	HP:0001263	Global developmental delay	0	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	68	381	29331	615068
HP:0001263	HP:0001263	Global developmental delay	0	EPRS CL E G H	2058	617951	LEUKODYSTROPHY, HYPOMYELINATING, 15	617951	CN244566	OMIM	1	6		3418	138295
HP:0001263	HP:0001263	Global developmental delay	0	ERCC1 CL E G H	2067	610758	Cerebrooculofacioskeletal syndrome 4	610758	C1853100	OMIM	1	8	57	3433	126380
HP:0001263	HP:0001263	Global developmental delay	0	ERCC2 CL E G H	2068	220295				ORPHA	1	108	186	3434	126340
HP:0001263	HP:0001263	Global developmental delay	0	ERCC2 CL E G H	2068	610756	Cerebrooculofacioskeletal syndrome 2	610756	C1853102	OMIM	1	108	186	3434	126340
HP:0001263	HP:0001263	Global developmental delay	0	ERCC3 CL E G H	2071	220295				ORPHA	1	20	100	3435	133510
HP:0001263	HP:0001263	Global developmental delay	0	ERCC4 CL E G H	2072	220295				ORPHA	1	72	241	3436	133520
HP:0001263	HP:0001263	Global developmental delay	0	ERCC4 CL E G H	2072	84				ORPHA	1	72	241	3436	133520
HP:0001263	HP:0001263	Global developmental delay	0	ERCC5 CL E G H	2073	220295				ORPHA	1	59	227	3437	133530
HP:0001263	HP:0001263	Global developmental delay	0	ERCC5 CL E G H	2073	616570	Cerebrooculofacioskeletal syndrome 3	616570	C1851443	OMIM	1	59	227	3437	133530
HP:0001263	HP:0001263	Global developmental delay	0	ERMARD CL E G H	55780	75857				ORPHA	1	2	140	21056	615532
HP:0001263	HP:0001263	Global developmental delay	0	ERMARD CL E G H	55780	615544	Periventricular nodular heterotopia 6	615544	C3809872	OMIM	1	2	140	21056	615532
HP:0001263	HP:0001263	Global developmental delay	0	ESCO2 CL E G H	157570	3103				ORPHA	1	31	190	27230	609353
HP:0001263	HP:0001263	Global developmental delay	0	ESCO2 CL E G H	157570	269000	Roberts-SC phocomelia syndrome	269000	C0392475	OMIM	1	31	190	27230	609353
HP:0001263	HP:0001263	Global developmental delay	0	ETHE1 CL E G H	23474	602473	Ethylmalonic encephalopathy	602473	C1865349	OMIM	1	37	110	23287	608451
HP:0001263	HP:0001263	Global developmental delay	0	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	19	119	17944	606489
HP:0001263	HP:0001263	Global developmental delay	0	EXOSC8 CL E G H	11340	616081	Pontocerebellar hypoplasia, type 1c	616081	C4015160	OMIM	1	3	58	17035	606019
HP:0001263	HP:0001263	Global developmental delay	0	EXOSC9 CL E G H	5393	618065	PONTOCEREBELLAR HYPOPLASIA, TYPE 1D	618065	CN252648	OMIM	1	2	22	9137	606180
HP:0001263	HP:0001263	Global developmental delay	0	EXT2 CL E G H	2132	52022				ORPHA	1	258	183	3513	608210
HP:0001263	HP:0001263	Global developmental delay	0	EXT2 CL E G H	2132	616682	Seizures, scoliosis, and macrocephaly syndrome	616682	C4225248	OMIM	1	258	183	3513	608210
HP:0001263	HP:0001263	Global developmental delay	0	EYA1 CL E G H	2138	2792	Hyperbilirubinemia type 1			ORPHA	1	221	240	3519	601653
HP:0001263	HP:0001263	Global developmental delay	0	EZH2 CL E G H	2146	3447				ORPHA	1	42	219	3527	601573
HP:0001263	HP:0001263	Global developmental delay	0	EZH2 CL E G H	2146	277590	Weaver syndrome	277590	C0265210	OMIM	1	42	219	3527	601573
HP:0001263	HP:0001263	Global developmental delay	0	FAM111A CL E G H	63901	602361	Gracile bone dysplasia	602361	C1865639	OMIM	1	9	38	24725	615292
HP:0001263	HP:0001263	Global developmental delay	0	FAM126A CL E G H	84668	85163				ORPHA	1	12	148	24587	610531
HP:0001263	HP:0001263	Global developmental delay	0	FAM126A CL E G H	84668	610532	Hypomyelination and Congenital Cataract	610532	C1864663	OMIM	1	12	148	24587	610531
HP:0001263	HP:0001263	Global developmental delay	0	FAM20C CL E G H	56975	259775	Raine syndrome	259775	C1850106	OMIM	1	28	130	22140	611061
HP:0001263	HP:0001263	Global developmental delay	0	FANCA CL E G H	2175	84				ORPHA	1	689	1004	3582	607139
HP:0001263	HP:0001263	Global developmental delay	0	FANCB CL E G H	2187	84				ORPHA	1	21	319	3583	300515
HP:0001263	HP:0001263	Global developmental delay	0	FANCC CL E G H	2176	84				ORPHA	1	65	764	3584	613899
HP:0001263	HP:0001263	Global developmental delay	0	FANCD2 CL E G H	2177	84				ORPHA	1	64	299	3585	613984
HP:0001263	HP:0001263	Global developmental delay	0	FANCE CL E G H	2178	84				ORPHA	1	17	143	3586	613976
HP:0001263	HP:0001263	Global developmental delay	0	FANCE CL E G H	2178	600901	Fanconi anemia, complementation group E	600901	C3160739	OMIM	1	17	143	3586	613976
HP:0001263	HP:0001263	Global developmental delay	0	FANCF CL E G H	2188	84				ORPHA	1	16	154	3587	613897
HP:0001263	HP:0001263	Global developmental delay	0	FANCG CL E G H	2189	84				ORPHA	1	92	234	3588	602956
HP:0001263	HP:0001263	Global developmental delay	0	FANCI CL E G H	55215	84				ORPHA	1	45	393	25568	611360
HP:0001263	HP:0001263	Global developmental delay	0	FANCI CL E G H	55215	609053	Fanconi anemia, complementation group I	609053	C1836861	OMIM	1	45	393	25568	611360
HP:0001263	HP:0001263	Global developmental delay	0	FANCL CL E G H	55120	84				ORPHA	1	24	128	20748	608111
HP:0001263	HP:0001263	Global developmental delay	0	FANCL CL E G H	55120	614083	Fanconi anemia, complementation group L	614083	C3469528	OMIM	1	24	128	20748	608111
HP:0001263	HP:0001263	Global developmental delay	0	FANCM CL E G H	57697	84				ORPHA	1	53	411	23168	609644
HP:0001263	HP:0001263	Global developmental delay	0	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	4	37	26222	616107
HP:0001263	HP:0001263	Global developmental delay	0	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	24	207	21062	611592
HP:0001263	HP:0001263	Global developmental delay	0	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	3	170	29160	612322
HP:0001263	HP:0001263	Global developmental delay	0	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	48	430	13601	605654
HP:0001263	HP:0001263	Global developmental delay	0	FBXO11 CL E G H	80204	618089	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES	618089	CN252702	OMIM	1	26	52	13590	607871
HP:0001263	HP:0001263	Global developmental delay	0	FGF12 CL E G H	2257	442835				ORPHA	1	10	74	3668	601513
HP:0001263	HP:0001263	Global developmental delay	0	FGFR1 CL E G H	2260	2396				ORPHA	1	265	306	3688	136350
HP:0001263	HP:0001263	Global developmental delay	0	FGFR1 CL E G H	2260	613001	Encephalocraniocutaneous lipomatosis	613001	C0406612	OMIM	1	265	306	3688	136350
HP:0001263	HP:0001263	Global developmental delay	0	FGFR1 CL E G H	2260	615465	Hartsfield syndrome	615465	C1845146	OMIM	1	265	306	3688	136350
HP:0001263	HP:0001263	Global developmental delay	0	FGFR2 CL E G H	2263	93259				ORPHA	1	159	293	3689	176943
HP:0001263	HP:0001263	Global developmental delay	0	FGFR2 CL E G H	2263	123790	Cutis Gyrata syndrome of Beare and Stevenson	123790	C1852406	OMIM	1	159	293	3689	176943
HP:0001263	HP:0001263	Global developmental delay	0	FGFR3 CL E G H	2261	610474	Camptodactyly, tall stature, and hearing loss syndrome	610474	C1864852	OMIM	1	77	404	3690	134934
HP:0001263	HP:0001263	Global developmental delay	0	FGFR3 CL E G H	2261	602849	Muenke syndrome	602849	C1864436	OMIM	1	77	404	3690	134934
HP:0001263	HP:0001263	Global developmental delay	0	FGFR3 CL E G H	2261	616482	Severe achondroplasia with developmental delay and acanthosis nigricans	616482	C2674173	OMIM	1	77	404	3690	134934
HP:0001263	HP:0001263	Global developmental delay	0	FGFR3 CL E G H	2261	187600	Thanatophoric dysplasia type 1	187600	C1868678	OMIM	1	77	404	3690	134934
HP:0001263	HP:0001263	Global developmental delay	0	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	7	188	3693	605830
HP:0001263	HP:0001263	Global developmental delay	0	FH CL E G H	2271	606812	Fumarase deficiency	606812	C0342770	OMIM	1	216	764	3700	136850
HP:0001263	HP:0001263	Global developmental delay	0	FIBP CL E G H	9158	617107	Thauvin-Robinet-Faivre syndrome	617107	C4310715	OMIM	1	2	29	3705	608296
HP:0001263	HP:0001263	Global developmental delay	0	FIG4 CL E G H	9896	3472	Meningococcemia			ORPHA	1	71	318	16873	609390
HP:0001263	HP:0001263	Global developmental delay	0	FKRP CL E G H	79147	899				ORPHA	1	141	349	17997	606596
HP:0001263	HP:0001263	Global developmental delay	0	FKRP CL E G H	79147	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	141	349	17997	606596
HP:0001263	HP:0001263	Global developmental delay	0	FKTN CL E G H	2218	899				ORPHA	1	59	370	3622	607440
HP:0001263	HP:0001263	Global developmental delay	0	FKTN CL E G H	2218	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	59	370	3622	607440
HP:0001263	HP:0001263	Global developmental delay	0	FKTN CL E G H	2218	272	VACTERL hydrocephaly			ORPHA	1	59	370	3622	607440
HP:0001263	HP:0001263	Global developmental delay	0	FLCN CL E G H	201163	610883	Chromosome 17, trisomy 17p11 2	610883	C2931246	OMIM	1	215	883	27310	607273
HP:0001263	HP:0001263	Global developmental delay	0	FLI1 CL E G H	2313	2308	Fetal minoxidil syndrome			ORPHA	1	7	122	3749	193067
HP:0001263	HP:0001263	Global developmental delay	0	FLII CL E G H	2314	819				ORPHA	1	2	149	3750	600362
HP:0001263	HP:0001263	Global developmental delay	0	FLNA CL E G H	2316	90652				ORPHA	1	271	1350	3754	300017
HP:0001263	HP:0001263	Global developmental delay	0	FLVCR2 CL E G H	55640	225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	225790	C1856972	OMIM	1	17	81	20105	610865
HP:0001263	HP:0001263	Global developmental delay	0	FMN2 CL E G H	56776	616193	Mental retardation, autosomal recessive 47	616193	C4015444	OMIM	1	9	155	14074	606373
HP:0001263	HP:0001263	Global developmental delay	0	FMR1 CL E G H	2332	261483				ORPHA	1	81	272	3775	309550
HP:0001263	HP:0001263	Global developmental delay	0	FOXE1 CL E G H	2304	95713				ORPHA	1	31	46	3806	602617
HP:0001263	HP:0001263	Global developmental delay	0	FOXRED1 CL E G H	55572	255241				ORPHA	1	8	164	26927	613622
HP:0001263	HP:0001263	Global developmental delay	0	FOXRED1 CL E G H	55572	618241	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19	618241		OMIM	1	8	164	26927	613622
HP:0001263	HP:0001263	Global developmental delay	0	FRA16E CL E G H	2464	136570	Chromosome 16p12.1 deletion syndrome, 520-kb	136570	C3149276	OMIM	1			3861	0
HP:0001263	HP:0001263	Global developmental delay	0	FRMD4A CL E G H	55691	466688				ORPHA	1	2	49	25491	616305
HP:0001263	HP:0001263	Global developmental delay	0	FRMD4A CL E G H	55691	616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	616819	C4225193	OMIM	1	2	49	25491	616305
HP:0001263	HP:0001263	Global developmental delay	0	FRMPD4 CL E G H	9758	300983	Mental retardation, X-linked 104	300983	C4310817	OMIM	1	6	254	29007	300838
HP:0001263	HP:0001263	Global developmental delay	0	FRRS1L CL E G H	23732	616981	Epileptic encephalopathy, early infantile, 37	616981	C4310770	OMIM	1	6	121	1362	604574
HP:0001263	HP:0001263	Global developmental delay	0	FTO CL E G H	79068	612938	Growth retardation, developmental delay, coarse facies, and early death	612938	C2752001	OMIM	1	16	108	24678	610966
HP:0001263	HP:0001263	Global developmental delay	0	FTSJ1 CL E G H	24140	309549	Mental retardation 9, X-linked	309549	C0796215	OMIM	1	10	195	13254	300499
HP:0001263	HP:0001263	Global developmental delay	0	FUCA1 CL E G H	2517	349	Neuroaxonal dystrophy renal tubular acidosis			ORPHA	1	34	84	4006	612280
HP:0001263	HP:0001263	Global developmental delay	0	FUT8 CL E G H	2530	618005	CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION	618005	CN248517	OMIM	1	5	25	4019	602589
HP:0001263	HP:0001263	Global developmental delay	0	GABRA1 CL E G H	2554	615744	Epileptic encephalopathy, early infantile, 19	615744	C3810400	OMIM	1	48	254	4075	137160
HP:0001263	HP:0001263	Global developmental delay	0	GABRB1 CL E G H	2560	617153	Epileptic encephalopathy, early infantile, 45	617153	C4310691	OMIM	1	5	40	4081	137190
HP:0001263	HP:0001263	Global developmental delay	0	GABRB2 CL E G H	2561	442835				ORPHA	1	16	162	4082	600232
HP:0001263	HP:0001263	Global developmental delay	0	GABRB2 CL E G H	2561	617829	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2	617829	CN757794	OMIM	1	16	162	4082	600232
HP:0001263	HP:0001263	Global developmental delay	0	GABRB3 CL E G H	2562	617113	Epileptic encephalopathy, early infantile, 43	617113	C4310712	OMIM	1	67	484	4083	137192
HP:0001263	HP:0001263	Global developmental delay	0	GABRD CL E G H	2563	1606				ORPHA	1	7	238	4084	137163
HP:0001263	HP:0001263	Global developmental delay	0	GAD1 CL E G H	2571	603513	Cerebral palsy, spastic quadriplegic, 1	603513	C2751938	OMIM	1	7	78	4092	605363
HP:0001263	HP:0001263	Global developmental delay	0	GALE CL E G H	2582	230350	UDPglucose-4-epimerase deficiency	230350	C0751161	OMIM	1	27	91	4116	606953
HP:0001263	HP:0001263	Global developmental delay	0	GAMT CL E G H	2593	612736	Deficiency of guanidinoacetate methyltransferase	612736	C0574080	OMIM	1	60	227	4136	601240
HP:0001263	HP:0001263	Global developmental delay	0	GATA4 CL E G H	2626	251071				ORPHA	1	171	288	4173	600576
HP:0001263	HP:0001263	Global developmental delay	0	GATA6 CL E G H	2627	600001	Pancreatic agenesis and congenital heart disease	600001	C1838780	OMIM	1	85	145	4174	601656
HP:0001263	HP:0001263	Global developmental delay	0	GATM CL E G H	2628	612718	Arginine:glycine amidinotransferase deficiency	612718	C2675179	OMIM	1	22	172	4175	602360
HP:0001263	HP:0001263	Global developmental delay	0	GBA CL E G H	2629	230900	Acute neuronopathic Gaucher's disease	230900	C0268250	OMIM	1	494	180	4177	606463
HP:0001263	HP:0001263	Global developmental delay	0	GCH1 CL E G H	2643	233910	GTP cyclohydrolase I deficiency	233910	C0268467	OMIM	1	252	174	4193	600225
HP:0001263	HP:0001263	Global developmental delay	0	GCK CL E G H	2645	99885				ORPHA	1	848	424	4195	138079
HP:0001263	HP:0001263	Global developmental delay	0	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	848	424	4195	138079
HP:0001263	HP:0001263	Global developmental delay	0	GDI1 CL E G H	2664	300849	X-Linked Mental Retardation 41	300849	C3887939	OMIM	1	12	243	4226	300104
HP:0001263	HP:0001263	Global developmental delay	0	GEMIN4 CL E G H	50628	617913	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES	617913	CN889218	OMIM	1	5	120	15717	606969
HP:0001263	HP:0001263	Global developmental delay	0	GFER CL E G H	2671	330054				ORPHA	1	6	88	4236	600924
HP:0001263	HP:0001263	Global developmental delay	0	GFER CL E G H	2671	613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay	613076	C2751320	OMIM	1	6	88	4236	600924
HP:0001263	HP:0001263	Global developmental delay	0	GJC2 CL E G H	57165	608804	Leukodystrophy, hypomyelinating, 2	608804	C1837355	OMIM	1	57	111	17494	608803
HP:0001263	HP:0001263	Global developmental delay	0	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	37	182	4289	300474
HP:0001263	HP:0001263	Global developmental delay	0	GLI2 CL E G H	2736	610829	Holoprosencephaly 9	610829	C1835819	OMIM	1	88	318	4318	165230
HP:0001263	HP:0001263	Global developmental delay	0	GLIS3 CL E G H	169792	610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	610199	C1857775	OMIM	1	19	346	28510	610192
HP:0001263	HP:0001263	Global developmental delay	0	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	5	35	24247	610516
HP:0001263	HP:0001263	Global developmental delay	0	GM2A CL E G H	2760	272750	Tay-Sachs disease, variant AB	272750	C0268275	OMIM	1	12	93	4367	613109
HP:0001263	HP:0001263	Global developmental delay	0	GMPPA CL E G H	29926	615510	Alacrima, achalasia, and mental retardation syndrome	615510	C3809738	OMIM	1	12	68	22923	615495
HP:0001263	HP:0001263	Global developmental delay	0	GMPPB CL E G H	29925	363623				ORPHA	1	49	121	22932	615320
HP:0001263	HP:0001263	Global developmental delay	0	GMPPB CL E G H	29925	615350	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14	615350	C3809216	OMIM	1	49	121	22932	615320
HP:0001263	HP:0001263	Global developmental delay	0	GMPPB CL E G H	29925	615351	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14	615351	C3809221	OMIM	1	49	121	22932	615320
HP:0001263	HP:0001263	Global developmental delay	0	GNAO1 CL E G H	2775	615473	Early infantile epileptic encephalopathy 17	615473	C3809606	OMIM	1	35	135	4389	139311
HP:0001263	HP:0001263	Global developmental delay	0	GNAO1 CL E G H	2775	617493	Neurodevelopmental disorder with involuntary movements	617493	C4479569	OMIM	1	35	135	4389	139311
HP:0001263	HP:0001263	Global developmental delay	0	GNB1 CL E G H	2782	488613				ORPHA	1	24	168	4396	139380
HP:0001263	HP:0001263	Global developmental delay	0	GNB1 CL E G H	2782	616973	Mental retardation, autosomal dominant 42	616973	C4310774	OMIM	1	24	168	4396	139380
HP:0001263	HP:0001263	Global developmental delay	0	GNB5 CL E G H	10681	617173	Intellectual developmental disorder with cardiac arrhythmia	617173	C4310682	OMIM	1	10	43	4401	604447
HP:0001263	HP:0001263	Global developmental delay	0	GNE CL E G H	10020	269921	Sialuria	269921	C0342853	OMIM	1	222	412	23657	603824
HP:0001263	HP:0001263	Global developmental delay	0	GNPTAB CL E G H	79158	252500	I cell disease	252500	C2673377	OMIM	1	188	384	29670	607840
HP:0001263	HP:0001263	Global developmental delay	0	GP1BB CL E G H	2812	567				ORPHA	1	53	387	4440	138720
HP:0001263	HP:0001263	Global developmental delay	0	GPAA1 CL E G H	8733	617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15	617810	C4540520	OMIM	1	11	75	4446	603048
HP:0001263	HP:0001263	Global developmental delay	0	GPHN CL E G H	10243	615501	Molybdenum cofactor deficiency, complementation group C	615501	C1854990	OMIM	1	20	117	15465	603930
HP:0001263	HP:0001263	Global developmental delay	0	GPR88 CL E G H	54112	616939	Chorea, childhood-onset, with psychomotor retardation	616939	C4310787	OMIM	1	1	16	4539	607468
HP:0001263	HP:0001263	Global developmental delay	0	GPT2 CL E G H	84706	477673	ANO5-Related Disorders		CN239193	ORPHA	1	10	54	18062	138210
HP:0001263	HP:0001263	Global developmental delay	0	GPT2 CL E G H	84706	616281	Mental retardation, autosomal recessive 49	616281	C4225388	OMIM	1	10	54	18062	138210
HP:0001263	HP:0001263	Global developmental delay	0	GRIA4 CL E G H	2893	617864	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES	617864	CN800195	OMIM	1	5	30	4574	138246
HP:0001263	HP:0001263	Global developmental delay	0	GRID2 CL E G H	2895	616204	Spinocerebellar ataxia, autosomal recessive 18	616204	C4015505	OMIM	1	21	101	4576	602368
HP:0001263	HP:0001263	Global developmental delay	0	GRIK2 CL E G H	2898	611092	Mental retardation, autosomal recessive 6	611092	C1970198	OMIM	1	7	81	4580	138244
HP:0001263	HP:0001263	Global developmental delay	0	GRIN1 CL E G H	2902	617820	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE	617820	CN737161	OMIM	1	39	337	4584	138249
HP:0001263	HP:0001263	Global developmental delay	0	GRIN2B CL E G H	2904	616139	Epileptic encephalopathy, early infantile, 27	616139	C4015316	OMIM	1	107	536	4586	138252
HP:0001263	HP:0001263	Global developmental delay	0	GRIN2B CL E G H	2904	613970	Mental retardation, autosomal dominant 6	613970	C3151411	OMIM	1	107	536	4586	138252
HP:0001263	HP:0001263	Global developmental delay	0	GRIN2D CL E G H	2906	442835				ORPHA	1	2	63	4588	602717
HP:0001263	HP:0001263	Global developmental delay	0	GRIN2D CL E G H	2906	617162	Epileptic encephalopathy, early infantile, 46	617162	C4310687	OMIM	1	2	63	4588	602717
HP:0001263	HP:0001263	Global developmental delay	0	GRM1 CL E G H	2911	614831	Spinocerebellar ataxia, autosomal recessive 13	614831	C3553816	OMIM	1	20	118	4593	604473
HP:0001263	HP:0001263	Global developmental delay	0	GTPBP2 CL E G H	54676	617988	JABERI-ELAHI SYNDROME	617988	CN244943	OMIM	1	5	20	4670	607434
HP:0001263	HP:0001263	Global developmental delay	0	GTPBP3 CL E G H	84705	616198	Combined oxidative phosphorylation deficiency 23	616198	C4015447	OMIM	1	15	93	14880	608536
HP:0001263	HP:0001263	Global developmental delay	0	H19 CL E G H	283120	180860	Russell-Silver syndrome	180860	C0175693	OMIM	1	38	45	4713	103280
HP:0001263	HP:0001263	Global developmental delay	0	HACE1 CL E G H	57531	464282				ORPHA	1	13	61	21033	610876
HP:0001263	HP:0001263	Global developmental delay	0	HACE1 CL E G H	57531	616756	Spastic paraplegia and psychomotor retardation with or without seizures	616756	C4225215	OMIM	1	13	61	21033	610876
HP:0001263	HP:0001263	Global developmental delay	0	HADHA CL E G H	3030	5				ORPHA	1	71	264	4801	600890
HP:0001263	HP:0001263	Global developmental delay	0	HADHA CL E G H	3030	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	71	264	4801	600890
HP:0001263	HP:0001263	Global developmental delay	0	HADHB CL E G H	3032	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	67	127	4803	143450
HP:0001263	HP:0001263	Global developmental delay	0	HCN1 CL E G H	348980	442835				ORPHA	1	40	223	4845	602780
HP:0001263	HP:0001263	Global developmental delay	0	HDAC4 CL E G H	9759	1001	Branchial arch defects			ORPHA	1	16	210	14063	605314
HP:0001263	HP:0001263	Global developmental delay	0	HDAC8 CL E G H	55869	3459				ORPHA	1	56	214	13315	300269
HP:0001263	HP:0001263	Global developmental delay	0	HELLS CL E G H	3070	2268				ORPHA	1	6	49	4861	603946
HP:0001263	HP:0001263	Global developmental delay	0	HERC1 CL E G H	8925	617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	617011	C4310766	OMIM	1	9	167	4867	605109
HP:0001263	HP:0001263	Global developmental delay	0	HERC2 CL E G H	8924	615516	Mental retardation, autosomal recessive 38	615516	C3809753	OMIM	1	6	464	4868	605837
HP:0001263	HP:0001263	Global developmental delay	0	HERC2 CL E G H	8924	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	6	464	4868	605837
HP:0001263	HP:0001263	Global developmental delay	0	HESX1 CL E G H	8820	226307				ORPHA	1	27	43	4877	601802
HP:0001263	HP:0001263	Global developmental delay	0	HESX1 CL E G H	8820	182230	Septo-optic dysplasia sequence	182230	C0338503	OMIM	1	27	43	4877	601802
HP:0001263	HP:0001263	Global developmental delay	0	HIBCH CL E G H	26275	250620	Beta-hydroxyisobutyryl-CoA deacylase deficiency	250620	C0342738	OMIM	1	19	82	4908	610690
HP:0001263	HP:0001263	Global developmental delay	0	HIKESHI CL E G H	51501	616881	Leukodystrophy, hypomyelinating, 13	616881	C4225170	OMIM	1	2	33	26938	614908
HP:0001263	HP:0001263	Global developmental delay	0	HIRA CL E G H	7290	567				ORPHA	1	5	383	4916	600237
HP:0001263	HP:0001263	Global developmental delay	0	HIST1H1E CL E G H	3008	617537	RAHMAN SYNDROME	617537	C4479637	OMIM	1	5		4718	142220
HP:0001263	HP:0001263	Global developmental delay	0	HIVEP2 CL E G H	3097	616977	Mental retardation, autosomal dominant 43	616977	C4310771	OMIM	1	15	126	4921	143054
HP:0001263	HP:0001263	Global developmental delay	0	HLCS CL E G H	3141	253270	Holocarboxylase synthetase deficiency	253270	C0268581	OMIM	1	49	313	4976	609018
HP:0001263	HP:0001263	Global developmental delay	0	HMGA2 CL E G H	8091	94063				ORPHA	1	21	21	5009	600698
HP:0001263	HP:0001263	Global developmental delay	0	HMGB3 CL E G H	3149	300915	Microphthalmia, syndromic 13	300915	C3806742	OMIM	1	1	182	5004	300193
HP:0001263	HP:0001263	Global developmental delay	0	HNMT CL E G H	3176	616739	Mental retardation, autosomal recessive 51	616739	C4225220	OMIM	1	4	33	5028	605238
HP:0001263	HP:0001263	Global developmental delay	0	HNRNPH2 CL E G H	3188	300986	Mental retardation, X-linked, syndromic, Bain type	300986	C4310814	OMIM	1	4	170	5042	300610
HP:0001263	HP:0001263	Global developmental delay	0	HNRNPK CL E G H	3190	616580	AU-KLINE SYNDROME	616580	C4225274	OMIM	1	15	69	5044	600712
HP:0001263	HP:0001263	Global developmental delay	0	HNRNPU CL E G H	3192	238769				ORPHA	1	68	273	5048	602869
HP:0001263	HP:0001263	Global developmental delay	0	HNRNPU CL E G H	3192	617391	Epileptic encephalopathy, early infantile, 54	617391	C4479319	OMIM	1	68	273	5048	602869
HP:0001263	HP:0001263	Global developmental delay	0	HRAS CL E G H	3265	218040	Costello syndrome	218040	C0587248	OMIM	1	34	241	5173	190020
HP:0001263	HP:0001263	Global developmental delay	0	HSD17B10 CL E G H	3028	300438	2-methyl-3-hydroxybutyric aciduria	300438	C3266731	OMIM	1	17	170	4800	300256
HP:0001263	HP:0001263	Global developmental delay	0	HSD17B4 CL E G H	3295	261515	Bifunctional peroxisomal enzyme deficiency	261515	C0342870	OMIM	1	101	271	5213	601860
HP:0001263	HP:0001263	Global developmental delay	0	HSPD1 CL E G H	3329	612233	Leukodystrophy, hypomyelinating, 4	612233	C2677109	OMIM	1	6	107	5261	118190
HP:0001263	HP:0001263	Global developmental delay	0	HTT CL E G H	3064	617435	Lopes-Maciel-Rodan syndrome	617435	C4479491	OMIM	1	8	117	4851	613004
HP:0001263	HP:0001263	Global developmental delay	0	HYLS1 CL E G H	219844	475	Acquired hypoprothrombinemia			ORPHA	1	2	130	26558	610693
HP:0001263	HP:0001263	Global developmental delay	0	HYMAI CL E G H	57061	99886				ORPHA	1		15	5326	606546
HP:0001263	HP:0001263	Global developmental delay	0	IARS CL E G H	3376	617093	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	617093	C4310720	OMIM	1	15		5330	600709
HP:0001263	HP:0001263	Global developmental delay	0	IDH2 CL E G H	3418	613657	D-2-hydroxyglutaric aciduria 2	613657	C3150909	OMIM	1	7	93	5383	147650
HP:0001263	HP:0001263	Global developmental delay	0	IDUA CL E G H	3425	93473				ORPHA	1	291	528	5391	252800
HP:0001263	HP:0001263	Global developmental delay	0	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	291	528	5391	252800
HP:0001263	HP:0001263	Global developmental delay	0	IER3IP1 CL E G H	51124	614231	Microcephaly, epilepsy, and diabetes syndrome	614231	C3280240	OMIM	1	4	69	18550	609382
HP:0001263	HP:0001263	Global developmental delay	0	IFIH1 CL E G H	64135	51				ORPHA	1	28	208	18873	606951
HP:0001263	HP:0001263	Global developmental delay	0	IFIH1 CL E G H	64135	615846	Aicardi-Goutieres syndrome 7	615846	C3888244	OMIM	1	28	208	18873	606951
HP:0001263	HP:0001263	Global developmental delay	0	IGF1R CL E G H	3480	270450	Insulin-like growth factor 1 resistance to	270450	C1849157	OMIM	1	79	455	5465	147370
HP:0001263	HP:0001263	Global developmental delay	0	IGF2 CL E G H	3481	180860	Russell-Silver syndrome	180860	C0175693	OMIM	1	11	56	5466	147470
HP:0001263	HP:0001263	Global developmental delay	0	INPP5E CL E G H	56623	220493				ORPHA	1	54	228	21474	613037
HP:0001263	HP:0001263	Global developmental delay	0	INPP5E CL E G H	56623	475	Acquired hypoprothrombinemia			ORPHA	1	54	228	21474	613037
HP:0001263	HP:0001263	Global developmental delay	0	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	54	228	21474	613037
HP:0001263	HP:0001263	Global developmental delay	0	INPP5K CL E G H	51763	559				ORPHA	1	10	132	33882	607875
HP:0001263	HP:0001263	Global developmental delay	0	INPP5K CL E G H	51763	617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	617404	C4479410	OMIM	1	10	132	33882	607875
HP:0001263	HP:0001263	Global developmental delay	0	INS CL E G H	3630	99885				ORPHA	1	83	106	6081	176730
HP:0001263	HP:0001263	Global developmental delay	0	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	83	106	6081	176730
HP:0001263	HP:0001263	Global developmental delay	0	INSR CL E G H	3643	262190	Pineal hyperplasia AND diabetes mellitus syndrome	262190	C0271695	OMIM	1	196	334	6091	147670
HP:0001263	HP:0001263	Global developmental delay	0	INVS CL E G H	27130	3156				ORPHA	1	35	255	17870	243305
HP:0001263	HP:0001263	Global developmental delay	0	IPW CL E G H	3653	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1		307	6109	601491
HP:0001263	HP:0001263	Global developmental delay	0	IQCB1 CL E G H	9657	3156				ORPHA	1	43	109	28949	609237
HP:0001263	HP:0001263	Global developmental delay	0	IQSEC2 CL E G H	23096	819				ORPHA	1	57	471	29059	300522
HP:0001263	HP:0001263	Global developmental delay	0	IRF2BPL CL E G H	64207	618088	NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES	618088	CN252701	OMIM	1	11	34	14282	611720
HP:0001263	HP:0001263	Global developmental delay	0	ISCA1 CL E G H	81689	617613	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5	617613	C4539919	OMIM	1	2	32	28660	611006
HP:0001263	HP:0001263	Global developmental delay	0	ISPD CL E G H	729920	899				ORPHA	1		371	37276	614631
HP:0001263	HP:0001263	Global developmental delay	0	ITCH CL E G H	83737	613385	Autoimmune disease, syndromic multisystem	613385	C3150649	OMIM	1	2	61	13890	606409
HP:0001263	HP:0001263	Global developmental delay	0	ITPR1 CL E G H	3708	1065	Camptodactyly joint contractures and facial skeletal dysplasia			ORPHA	1	95	422	6180	147265
HP:0001263	HP:0001263	Global developmental delay	0	IVD CL E G H	3712	33				ORPHA	1	92	197	6186	607036
HP:0001263	HP:0001263	Global developmental delay	0	IVD CL E G H	3712	243500	Isovaleryl-CoA dehydrogenase deficiency	243500	C0268575	OMIM	1	92	197	6186	607036
HP:0001263	HP:0001263	Global developmental delay	0	IYD CL E G H	389434	95716				ORPHA	1	5	159	21071	612025
HP:0001263	HP:0001263	Global developmental delay	0	JAM3 CL E G H	83700	613730	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts	613730	C3151000	OMIM	1	4	111	15532	606871
HP:0001263	HP:0001263	Global developmental delay	0	JMJD1C CL E G H	221037	567				ORPHA	1	29	314	12313	604503
HP:0001263	HP:0001263	Global developmental delay	0	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	1	72	799	24565	612452
HP:0001263	HP:0001263	Global developmental delay	0	KARS CL E G H	3735	613641	Charcot-Marie-Tooth disease, recessive intermediate B	613641	C3150897	OMIM	1	25		6215	601421
HP:0001263	HP:0001263	Global developmental delay	0	KAT6A CL E G H	7994	457193				ORPHA	1	29	202	13013	601408
HP:0001263	HP:0001263	Global developmental delay	0	KAT6A CL E G H	7994	616268	Mental retardation, autosomal dominant 32	616268	C4225396	OMIM	1	29	202	13013	601408
HP:0001263	HP:0001263	Global developmental delay	0	KAT6B CL E G H	23522	3047				ORPHA	1	76	256	17582	605880
HP:0001263	HP:0001263	Global developmental delay	0	KAT6B CL E G H	23522	85201				ORPHA	1	76	256	17582	605880
HP:0001263	HP:0001263	Global developmental delay	0	KAT6B CL E G H	23522	606170	Genitopatellar syndrome	606170	C1853566	OMIM	1	76	256	17582	605880
HP:0001263	HP:0001263	Global developmental delay	0	KATNB1 CL E G H	10300	616212	Lissencephaly 6, with microcephaly	616212	C4015525	OMIM	1	11	71	6217	602703
HP:0001263	HP:0001263	Global developmental delay	0	KCNA2 CL E G H	3737	442835				ORPHA	1	21	101	6220	176262
HP:0001263	HP:0001263	Global developmental delay	0	KCNAB2 CL E G H	8514	1606				ORPHA	1	5	83	6229	601142
HP:0001263	HP:0001263	Global developmental delay	0	KCNB1 CL E G H	3745	442835				ORPHA	1	30	208	6231	600397
HP:0001263	HP:0001263	Global developmental delay	0	KCNB1 CL E G H	3745	616056	Epileptic encephalopathy, early infantile, 26	616056	C4015119	OMIM	1	30	208	6231	600397
HP:0001263	HP:0001263	Global developmental delay	0	KCNC3 CL E G H	3748	98768				ORPHA	1	12	88	6235	176264
HP:0001263	HP:0001263	Global developmental delay	0	KCNH1 CL E G H	3756	611816	Temple-Baraitser syndrome	611816	C2678486	OMIM	1	13	82	6250	603305
HP:0001263	HP:0001263	Global developmental delay	0	KCNJ1 CL E G H	3758	241200	Bartter syndrome, type 2, antenatal	241200	C1855849	OMIM	1	70	149	6255	600359
HP:0001263	HP:0001263	Global developmental delay	0	KCNJ10 CL E G H	3766	199343				ORPHA	1	33	176	6256	602208
HP:0001263	HP:0001263	Global developmental delay	0	KCNJ10 CL E G H	3766	612780	SeSAME syndrome	612780	C2748572	OMIM	1	33	176	6256	602208
HP:0001263	HP:0001263	Global developmental delay	0	KCNJ11 CL E G H	3767	99886				ORPHA	1	187	210	6257	600937
HP:0001263	HP:0001263	Global developmental delay	0	KCNJ11 CL E G H	3767	99885				ORPHA	1	187	210	6257	600937
HP:0001263	HP:0001263	Global developmental delay	0	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	187	210	6257	600937
HP:0001263	HP:0001263	Global developmental delay	0	KCNMA1 CL E G H	3778	617643	CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES	617643	C4539985	OMIM	1	11	283	6284	600150
HP:0001263	HP:0001263	Global developmental delay	0	KCNQ2 CL E G H	3785	613720	Early infantile epileptic encephalopathy 7	613720	C3150986	OMIM	1	314	908	6296	602235
HP:0001263	HP:0001263	Global developmental delay	0	KCNQ5 CL E G H	56479	617601	MENTAL RETARDATION, AUTOSOMAL DOMINANT 46	617601	C4539851	OMIM	1	6	29	6299	607357
HP:0001263	HP:0001263	Global developmental delay	0	KCNT2 CL E G H	343450	617771	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57	617771	C4540411	OMIM	1	5	33	18866	610044
HP:0001263	HP:0001263	Global developmental delay	0	KDM5B CL E G H	10765	618109	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65	618109	CN253823	OMIM	1	33	52	18039	605393
HP:0001263	HP:0001263	Global developmental delay	0	KDM6A CL E G H	7403	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	81	282	12637	300128
HP:0001263	HP:0001263	Global developmental delay	0	KIAA0556 CL E G H	23247	475	Acquired hypoprothrombinemia			ORPHA	1	2		29068	616650
HP:0001263	HP:0001263	Global developmental delay	0	KIAA0556 CL E G H	23247	616784	Joubert syndrome 26	616784	C4084843	OMIM	1	2		29068	616650
HP:0001263	HP:0001263	Global developmental delay	0	KIAA0586 CL E G H	9786	475	Acquired hypoprothrombinemia			ORPHA	1	31	139	19960	610178
HP:0001263	HP:0001263	Global developmental delay	0	KIAA0586 CL E G H	9786	616490	Joubert syndrome 23	616490	C4084822	OMIM	1	31	139	19960	610178
HP:0001263	HP:0001263	Global developmental delay	0	KIAA0753 CL E G H	9851	2754				ORPHA	1	7	65	29110	617112
HP:0001263	HP:0001263	Global developmental delay	0	KIAA1109 CL E G H	84162	617822	ALKURAYA-KUCINSKAS SYNDROME	617822	CN737163	OMIM	1	16	61	26953	611565
HP:0001263	HP:0001263	Global developmental delay	0	KIDINS220 CL E G H	57498	617296	Spastic paraplegia, intellectual disability, nystagmus, and obesity	617296	C4284592	OMIM	1	15	78	29508	615759
HP:0001263	HP:0001263	Global developmental delay	0	KIF11 CL E G H	3832	2526				ORPHA	1	70	114	6388	148760
HP:0001263	HP:0001263	Global developmental delay	0	KIF14 CL E G H	9928	2512				ORPHA	1	16	74	19181	611279
HP:0001263	HP:0001263	Global developmental delay	0	KIF1A CL E G H	547	2836				ORPHA	1	43	866	888	601255
HP:0001263	HP:0001263	Global developmental delay	0	KIF1A CL E G H	547	614255	Mental retardation, autosomal dominant 9	614255	C3280283	OMIM	1	43	866	888	601255
HP:0001263	HP:0001263	Global developmental delay	0	KIF1BP CL E G H	26128	609460	Goldberg-Shprintzen megacolon syndrome	609460	C1836123	OMIM	1	10		23419	609367
HP:0001263	HP:0001263	Global developmental delay	0	KIF22 CL E G H	3835	93360				ORPHA	1	4	261	6391	603213
HP:0001263	HP:0001263	Global developmental delay	0	KIF2A CL E G H	3796	615411	Cortical dysplasia, complex, with other brain malformations 3	615411	C3809414	OMIM	1	7	97	6318	602591
HP:0001263	HP:0001263	Global developmental delay	0	KIF5C CL E G H	3800	615282	Cortical dysplasia, complex, with other brain malformations 2	615282	C3809013	OMIM	1	6	72	6325	604593
HP:0001263	HP:0001263	Global developmental delay	0	KIF7 CL E G H	374654	2754				ORPHA	1	45	319	30497	611254
HP:0001263	HP:0001263	Global developmental delay	0	KLHL15 CL E G H	80311	300982	Mental retardation, X-linked 103	300982	C4310818	OMIM	1	4	170	29347	300980
HP:0001263	HP:0001263	Global developmental delay	0	KLHL7 CL E G H	55975	97297				ORPHA	1	14	94	15646	611119
HP:0001263	HP:0001263	Global developmental delay	0	KLLN CL E G H	100144748	201				ORPHA	1	8	173	37212	612105
HP:0001263	HP:0001263	Global developmental delay	0	KMT2A CL E G H	4297	605130	Wiedemann-Steiner syndrome	605130	C1854630	OMIM	1	127	338	7132	159555
HP:0001263	HP:0001263	Global developmental delay	0	KMT2C CL E G H	58508	617768	KLEEFSTRA SYNDROME 2	617768	C4540395	OMIM	1	38	260	13726	606833
HP:0001263	HP:0001263	Global developmental delay	0	KMT2D CL E G H	8085	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	712	1231	7133	602113
HP:0001263	HP:0001263	Global developmental delay	0	KMT5B CL E G H	51111	617788	MENTAL RETARDATION, AUTOSOMAL DOMINANT 51	617788	C4540474	OMIM	1	15	35	24283	610881
HP:0001263	HP:0001263	Global developmental delay	0	KNL1 CL E G H	57082	2512				ORPHA	1	6	176	24054	609173
HP:0001263	HP:0001263	Global developmental delay	0	KPTN CL E G H	11133	615637	Mental retardation, autosomal recessive 41	615637	C3810225	OMIM	1	5	58	6404	615620
HP:0001263	HP:0001263	Global developmental delay	0	KRAS CL E G H	3845	2396				ORPHA	1	45	265	6407	190070
HP:0001263	HP:0001263	Global developmental delay	0	KRAS CL E G H	3845	615278	Cardiofaciocutaneous syndrome 2	615278	C3809005	OMIM	1	45	265	6407	190070
HP:0001263	HP:0001263	Global developmental delay	0	KRAS CL E G H	3845	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	45	265	6407	190070
HP:0001263	HP:0001263	Global developmental delay	0	KRAS CL E G H	3845	609942	Noonan syndrome 3	609942	C1860991	OMIM	1	45	265	6407	190070
HP:0001263	HP:0001263	Global developmental delay	0	KYNU CL E G H	8942	79155				ORPHA	1	8	36	6469	605197
HP:0001263	HP:0001263	Global developmental delay	0	KYNU CL E G H	8942	236800	Hydroxykynureninuria	236800	C0268474	OMIM	1	8	36	6469	605197
HP:0001263	HP:0001263	Global developmental delay	0	LAGE3 CL E G H	8270	2065				ORPHA	1	3	216	26058	300060
HP:0001263	HP:0001263	Global developmental delay	0	LAGE3 CL E G H	8270	301006	GALLOWAY-MOWAT SYNDROME 2, X-LINKED	301006	C4538784	OMIM	1	3	216	26058	300060
HP:0001263	HP:0001263	Global developmental delay	0	LAMB2 CL E G H	3913	98915				ORPHA	1	127	276	6487	150325
HP:0001263	HP:0001263	Global developmental delay	0	LAMP2 CL E G H	3920	300257	Danon disease	300257	C0878677	OMIM	1	103	472	6501	309060
HP:0001263	HP:0001263	Global developmental delay	0	LARGE1 CL E G H	9215	899				ORPHA	1	28	346	6511	603590
HP:0001263	HP:0001263	Global developmental delay	0	LARGE1 CL E G H	9215	608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	608840	C1837229	OMIM	1	28	346	6511	603590
HP:0001263	HP:0001263	Global developmental delay	0	LARGE1 CL E G H	9215	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	28	346	6511	603590
HP:0001263	HP:0001263	Global developmental delay	0	LARP7 CL E G H	51574	615071	Alazami syndrome	615071	C3554439	OMIM	1	11	65	24912	612026
HP:0001263	HP:0001263	Global developmental delay	0	LARS CL E G H	51520	615438	Infantile liver failure syndrome 1	615438	C3809522	OMIM	1	7		6512	151350
HP:0001263	HP:0001263	Global developmental delay	0	LAS1L CL E G H	81887	3459				ORPHA	1	4	167	25726	300964
HP:0001263	HP:0001263	Global developmental delay	0	LAS1L CL E G H	81887	309585	Wilson-Turner X-linked mental retardation syndrome	309585	C1839736	OMIM	1	4	167	25726	300964
HP:0001263	HP:0001263	Global developmental delay	0	LBR CL E G H	3930	169400	Pelger-Huët anomaly	169400	C0030779	OMIM	1	28	140	6518	600024
HP:0001263	HP:0001263	Global developmental delay	0	LEMD3 CL E G H	23592	94063				ORPHA	1	34	111	28887	607844
HP:0001263	HP:0001263	Global developmental delay	0	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	4	167	6556	604407
HP:0001263	HP:0001263	Global developmental delay	0	LETM1 CL E G H	3954	280	Halal Setton Wang syndrome			ORPHA	1	4	167	6556	604407
HP:0001263	HP:0001263	Global developmental delay	0	LHX3 CL E G H	8022	226307				ORPHA	1	18	143	6595	600577
HP:0001263	HP:0001263	Global developmental delay	0	LHX4 CL E G H	89884	226307				ORPHA	1	23	97	21734	602146
HP:0001263	HP:0001263	Global developmental delay	0	LIG4 CL E G H	3981	99812				ORPHA	1	40	245	6601	601837
HP:0001263	HP:0001263	Global developmental delay	0	LIG4 CL E G H	3981	606593	Lig4 syndrome	606593	C1847827	OMIM	1	40	245	6601	601837
HP:0001263	HP:0001263	Global developmental delay	0	LINGO1 CL E G H	84894	618103	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64	618103	CN253431	OMIM	1	3	30	21205	609791
HP:0001263	HP:0001263	Global developmental delay	0	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	9	162	30922	610350
HP:0001263	HP:0001263	Global developmental delay	0	LIPA CL E G H	3988	75233				ORPHA	1	96	214	6617	613497
HP:0001263	HP:0001263	Global developmental delay	0	LIPT1 CL E G H	51601	255241				ORPHA	1	9	52	29569	610284
HP:0001263	HP:0001263	Global developmental delay	0	LIPT1 CL E G H	51601	616299	Lipoyltransferase 1 deficiency	616299	C4225379	OMIM	1	9	52	29569	610284
HP:0001263	HP:0001263	Global developmental delay	0	LMAN2L CL E G H	81562	616887	Mental retardation, autosomal recessive 52	616887	C4225168	OMIM	1	1	50	19263	609552
HP:0001263	HP:0001263	Global developmental delay	0	LMBRD1 CL E G H	55788	277380	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE	277380	C1848578	OMIM	1	9	83	23038	612625
HP:0001263	HP:0001263	Global developmental delay	0	LMNA CL E G H	4000	157973				ORPHA	1	574	963	6636	150330
HP:0001263	HP:0001263	Global developmental delay	0	LMNB2 CL E G H	84823	616540	Epilepsy, progressive myoclonic, 9	616540	C4225289	OMIM	1	5	161	6638	150341
HP:0001263	HP:0001263	Global developmental delay	0	LNPK CL E G H	80856	618090	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM	618090	CN252703	OMIM	1	2	32	21610	610236
HP:0001263	HP:0001263	Global developmental delay	0	LONP1 CL E G H	9361	1458				ORPHA	1	19	125	9479	605490
HP:0001263	HP:0001263	Global developmental delay	0	LONP1 CL E G H	9361	600373	CODAS syndrome	600373	C1838180	OMIM	1	19	125	9479	605490
HP:0001263	HP:0001263	Global developmental delay	0	LRP2 CL E G H	4036	2143	Junctional epidermolysis bullosa inversa			ORPHA	1	46	474	6694	600073
HP:0001263	HP:0001263	Global developmental delay	0	LRPPRC CL E G H	10128	220111	Leigh syndrome, French Canadian type	220111	C1857355	OMIM	1	21	410	15714	607544
HP:0001263	HP:0001263	Global developmental delay	0	LTBP4 CL E G H	8425	98896				ORPHA	1	18	210	6717	604710
HP:0001263	HP:0001263	Global developmental delay	0	LTC4S CL E G H	4056	614037	Leukotriene c4 synthase deficiency	614037	C3279662	OMIM	1	6	46	6719	246530
HP:0001263	HP:0001263	Global developmental delay	0	LYRM7 CL E G H	90624	615838	Mitochondrial complex III deficiency, nuclear type 8	615838	C4014440	OMIM	1	9	38	28072	615831
HP:0001263	HP:0001263	Global developmental delay	0	LYST CL E G H	1130	167				ORPHA	1	102	592	1968	606897
HP:0001263	HP:0001263	Global developmental delay	0	LZTFL1 CL E G H	54585	615994	Bardet-Biedl syndrome 17	615994	C3714980	OMIM	1	3	24	6741	606568
HP:0001263	HP:0001263	Global developmental delay	0	MAD2L2 CL E G H	10459	84				ORPHA	1	1	53	6764	604094
HP:0001263	HP:0001263	Global developmental delay	0	MAG CL E G H	4099	459056				ORPHA	1	4	85	6783	159460
HP:0001263	HP:0001263	Global developmental delay	0	MAG CL E G H	4099	616680	Spastic paraplegia 75, autosomal recessive	616680	C4225250	OMIM	1	4	85	6783	159460
HP:0001263	HP:0001263	Global developmental delay	0	MAGEL2 CL E G H	54551	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	20	439	6814	605283
HP:0001263	HP:0001263	Global developmental delay	0	MAGEL2 CL E G H	54551	615547	Schaaf-yang syndrome	615547	C3809877	OMIM	1	20	439	6814	605283
HP:0001263	HP:0001263	Global developmental delay	0	MAN1B1 CL E G H	11253	614202	Mental retardation, autosomal recessive 15	614202	C3280127	OMIM	1	27	219	6823	604346
HP:0001263	HP:0001263	Global developmental delay	0	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	151	322	6826	609458
HP:0001263	HP:0001263	Global developmental delay	0	MAP2K1 CL E G H	5604	615279	Cardiofaciocutaneous syndrome 3	615279	C3809006	OMIM	1	23	214	6840	176872
HP:0001263	HP:0001263	Global developmental delay	0	MAP2K1 CL E G H	5604	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	23	214	6840	176872
HP:0001263	HP:0001263	Global developmental delay	0	MAP2K2 CL E G H	5605	615280	Cardiofaciocutaneous syndrome 4	615280	C3809007	OMIM	1	35	314	6842	601263
HP:0001263	HP:0001263	Global developmental delay	0	MAP2K2 CL E G H	5605	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	35	314	6842	601263
HP:0001263