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	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	162	13666	605378
HP:0001263	HP:0001263	Global developmental delay	0	AAAS CL E G H	8086	231550	Glucocorticoid deficiency with achalasia	231550	C0271742	OMIM	1	174	13666	605378
HP:0001263	HP:0001263	Global developmental delay	0	AARS CL E G H	16	442835				ORPHA	1		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		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	417	23	137150
HP:0001263	HP:0001263	Global developmental delay	0	ABAT CL E G H	18	613163	Gamma-aminobutyric acid transaminase deficiency	613163	C0342708	OMIM	1	507	23	137150
HP:0001263	HP:0001263	Global developmental delay	0	ABCB7 CL E G H	22	2802				ORPHA	1	246	48	300135
HP:0001263	HP:0001263	Global developmental delay	0	ABCB7 CL E G H	22	2802				ORPHA	1	251	48	300135
HP:0001263	HP:0001263	Global developmental delay	0	ABCC8 CL E G H	6833	99885				ORPHA	1	1125	59	600509
HP:0001263	HP:0001263	Global developmental delay	0	ABCC8 CL E G H	6833	99885				ORPHA	1	1253	59	600509
HP:0001263	HP:0001263	Global developmental delay	0	ABCC8 CL E G H	6833	99886				ORPHA	1	1125	59	600509
HP:0001263	HP:0001263	Global developmental delay	0	ABCC8 CL E G H	6833	99886				ORPHA	1	1253	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	1125	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	1253	59	600509
HP:0001263	HP:0001263	Global developmental delay	0	ABHD5 CL E G H	51099	98907				ORPHA	1	173	21396	604780
HP:0001263	HP:0001263	Global developmental delay	0	ABHD5 CL E G H	51099	98907				ORPHA	1	184	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	491	89	607008
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	559	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	262	90	606885
HP:0001263	HP:0001263	Global developmental delay	0	ACADS CL E G H	35	201470	Deficiency of butyryl-CoA dehydrogenase	201470	C0342783	OMIM	1	294	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	275	91	600301
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	290	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	32	94	100678
HP:0001263	HP:0001263	Global developmental delay	0	ACD CL E G H	65057	3322				ORPHA	1	229	25070	609377
HP:0001263	HP:0001263	Global developmental delay	0	ACD CL E G H	65057	3322				ORPHA	1	321	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	229	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	321	25070	609377
HP:0001263	HP:0001263	Global developmental delay	0	ACOX1 CL E G H	51	2971				ORPHA	1	388	119	609751
HP:0001263	HP:0001263	Global developmental delay	0	ACOX1 CL E G H	51	2971				ORPHA	1	435	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	41	120	601641
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	58	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	570	27288	614245
HP:0001263	HP:0001263	Global developmental delay	0	ACSF3 CL E G H	197322	614265	Combined malonic and methylmalonic aciduria	614265	C3280314	OMIM	1	615	27288	614245
HP:0001263	HP:0001263	Global developmental delay	0	ACTA1 CL E G H	58	97240				ORPHA	1	325	129	102610
HP:0001263	HP:0001263	Global developmental delay	0	ACTA1 CL E G H	58	97240				ORPHA	1	362	129	102610
HP:0001263	HP:0001263	Global developmental delay	0	ACTB CL E G H	60	79107				ORPHA	1	322	132	102630
HP:0001263	HP:0001263	Global developmental delay	0	ACTB CL E G H	60	79107				ORPHA	1	349	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	322	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	349	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	322	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	349	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	347	144	102560
HP:0001263	HP:0001263	Global developmental delay	0	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	370	144	102560
HP:0001263	HP:0001263	Global developmental delay	0	ACY1 CL E G H	95	609924	Aminoacylase 1 deficiency	609924	C1835922	OMIM	1	63	177	104620
HP:0001263	HP:0001263	Global developmental delay	0	ACY1 CL E G H	95	609924	Aminoacylase 1 deficiency	609924	C1835922	OMIM	1	78	177	104620
HP:0001263	HP:0001263	Global developmental delay	0	ADAMTSL2 CL E G H	9719	231050	Geleophysic dysplasia 1	231050	C3278147	OMIM	1	242	14631	612277
HP:0001263	HP:0001263	Global developmental delay	0	ADAMTSL2 CL E G H	9719	231050	Geleophysic dysplasia 1	231050	C3278147	OMIM	1	244	14631	612277
HP:0001263	HP:0001263	Global developmental delay	0	ADAR CL E G H	103	51				ORPHA	1	471	225	146920
HP:0001263	HP:0001263	Global developmental delay	0	ADAR CL E G H	103	51				ORPHA	1	654	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	471	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	654	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	52	245	601568
HP:0001263	HP:0001263	Global developmental delay	0	ADD3 CL E G H	120	617008	Cerebral palsy, spastic quadriplegic, 3	617008	C4310767	OMIM	1	88	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	73	257	102750
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	79	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	251	15766	611386
HP:0001263	HP:0001263	Global developmental delay	0	ADNP CL E G H	23394	615873	Helsmoortel-van der aa syndrome	615873	C4014538	OMIM	1	268	15766	611386
HP:0001263	HP:0001263	Global developmental delay	0	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	368	291	608222
HP:0001263	HP:0001263	Global developmental delay	0	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	582	291	608222
HP:0001263	HP:0001263	Global developmental delay	0	AFF4 CL E G H	27125	616368	Chops syndrome	616368	C4085597	OMIM	1	112	17869	604417
HP:0001263	HP:0001263	Global developmental delay	0	AFF4 CL E G H	27125	616368	Chops syndrome	616368	C4085597	OMIM	1	157	17869	604417
HP:0001263	HP:0001263	Global developmental delay	0	AGTPBP1 CL E G H	23287	618276	618276	618276		OMIM	1	64	17258	606830
HP:0001263	HP:0001263	Global developmental delay	0	AHCY CL E G H	191	88618				ORPHA	1	113	343	180960
HP:0001263	HP:0001263	Global developmental delay	0	AHCY CL E G H	191	88618				ORPHA	1	126	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	113	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	126	343	180960
HP:0001263	HP:0001263	Global developmental delay	0	AHDC1 CL E G H	27245	615829	Xia-Gibbs syndrome	615829	C4014419	OMIM	1	312	25230	615790
HP:0001263	HP:0001263	Global developmental delay	0	AHDC1 CL E G H	27245	615829	Xia-Gibbs syndrome	615829	C4014419	OMIM	1	373	25230	615790
HP:0001263	HP:0001263	Global developmental delay	0	AHI1 CL E G H	54806	220493				ORPHA	1	650	21575	608894
HP:0001263	HP:0001263	Global developmental delay	0	AHI1 CL E G H	54806	220493				ORPHA	1	827	21575	608894
HP:0001263	HP:0001263	Global developmental delay	0	AHI1 CL E G H	54806	475	Acquired hypoprothrombinemia			ORPHA	1	650	21575	608894
HP:0001263	HP:0001263	Global developmental delay	0	AHI1 CL E G H	54806	475	Acquired hypoprothrombinemia			ORPHA	1	827	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	413	8768	300169
HP:0001263	HP:0001263	Global developmental delay	0	AIFM1 CL E G H	9131	300816	Combined oxidative phosphorylation deficiency 6	300816	C3151753	OMIM	1	450	8768	300169
HP:0001263	HP:0001263	Global developmental delay	0	AIMP1 CL E G H	9255	260600	Leukodystrophy, hypomyelinating 3	260600	C1850053	OMIM	1	52	10648	603605
HP:0001263	HP:0001263	Global developmental delay	0	AIMP1 CL E G H	9255	260600	Leukodystrophy, hypomyelinating 3	260600	C1850053	OMIM	1	66	10648	603605
HP:0001263	HP:0001263	Global developmental delay	0	AKT1 CL E G H	207	201				ORPHA	1	380	391	164730
HP:0001263	HP:0001263	Global developmental delay	0	AKT1 CL E G H	207	201				ORPHA	1	417	391	164730
HP:0001263	HP:0001263	Global developmental delay	0	ALDH18A1 CL E G H	5832	35664				ORPHA	1	346	9722	138250
HP:0001263	HP:0001263	Global developmental delay	0	ALDH18A1 CL E G H	5832	35664				ORPHA	1	392	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	346	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	392	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	346	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	392	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	346	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	392	9722	138250
HP:0001263	HP:0001263	Global developmental delay	0	ALDH5A1 CL E G H	7915	22	AFib amyloidosis		CN244920	ORPHA	1	472	408	610045
HP:0001263	HP:0001263	Global developmental delay	0	ALDH5A1 CL E G H	7915	22	AFib amyloidosis		CN244920	ORPHA	1	537	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	472	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	537	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	133	7179	603178
HP:0001263	HP:0001263	Global developmental delay	0	ALDH6A1 CL E G H	4329	614105	Methylmalonate semialdehyde dehydrogenase deficiency	614105	C3279840	OMIM	1	146	7179	603178
HP:0001263	HP:0001263	Global developmental delay	0	ALDH7A1 CL E G H	501	3006				ORPHA	1	619	877	107323
HP:0001263	HP:0001263	Global developmental delay	0	ALDH7A1 CL E G H	501	3006				ORPHA	1	696	877	107323
HP:0001263	HP:0001263	Global developmental delay	0	ALDH7A1 CL E G H	501	266100	Pyridoxine-dependent epilepsy	266100	C1849508	OMIM	1	619	877	107323
HP:0001263	HP:0001263	Global developmental delay	0	ALDH7A1 CL E G H	501	266100	Pyridoxine-dependent epilepsy	266100	C1849508	OMIM	1	696	877	107323
HP:0001263	HP:0001263	Global developmental delay	0	ALG1 CL E G H	56052	79327				ORPHA	1	260	18294	605907
HP:0001263	HP:0001263	Global developmental delay	0	ALG1 CL E G H	56052	79327				ORPHA	1	391	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	260	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	391	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	170	32456	613666
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	179	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	302	19358	607144
HP:0001263	HP:0001263	Global developmental delay	0	ALG12 CL E G H	79087	607143	ALG12-congenital disorder of glycosylation	607143	C2931001	OMIM	1	390	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	633	30881	300776
HP:0001263	HP:0001263	Global developmental delay	0	ALG13 CL E G H	79868	300884	Epileptic encephalopathy, early infantile, 36	300884	C3550904	OMIM	1	710	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	193	23159	607905
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	241	23159	607905
HP:0001263	HP:0001263	Global developmental delay	0	ALG3 CL E G H	10195	79321				ORPHA	1	159	23056	608750
HP:0001263	HP:0001263	Global developmental delay	0	ALG3 CL E G H	10195	79321				ORPHA	1	166	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	159	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	166	23056	608750
HP:0001263	HP:0001263	Global developmental delay	0	ALG6 CL E G H	29929	79320				ORPHA	1	314	23157	604566
HP:0001263	HP:0001263	Global developmental delay	0	ALG6 CL E G H	29929	79320				ORPHA	1	404	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	314	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	404	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	212	15672	606941
HP:0001263	HP:0001263	Global developmental delay	0	ALG9 CL E G H	79796	608776	ALG9 congenital disorder of glycosylation	608776	C2931006	OMIM	1	222	15672	606941
HP:0001263	HP:0001263	Global developmental delay	0	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	2504	428	606844
HP:0001263	HP:0001263	Global developmental delay	0	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	3342	428	606844
HP:0001263	HP:0001263	Global developmental delay	0	ALX4 CL E G H	60529	52022				ORPHA	1	245	450	605420
HP:0001263	HP:0001263	Global developmental delay	0	ALX4 CL E G H	60529	52022				ORPHA	1	246	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	172	469	102771
HP:0001263	HP:0001263	Global developmental delay	0	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	230	469	102771
HP:0001263	HP:0001263	Global developmental delay	0	ANK1 CL E G H	286	251066				ORPHA	1	567	492	612641
HP:0001263	HP:0001263	Global developmental delay	0	ANK1 CL E G H	286	251066				ORPHA	1	604	492	612641
HP:0001263	HP:0001263	Global developmental delay	0	ANKLE2 CL E G H	23141	2512				ORPHA	1	184	29101	616062
HP:0001263	HP:0001263	Global developmental delay	0	ANKLE2 CL E G H	23141	2512				ORPHA	1	189	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	184	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	189	29101	616062
HP:0001263	HP:0001263	Global developmental delay	0	ANKRD11 CL E G H	29123	2332				ORPHA	1	1101	21316	611192
HP:0001263	HP:0001263	Global developmental delay	0	ANKRD11 CL E G H	29123	2332				ORPHA	1	1184	21316	611192
HP:0001263	HP:0001263	Global developmental delay	0	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	1101	21316	611192
HP:0001263	HP:0001263	Global developmental delay	0	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	1184	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	53	559	603531
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	55	559	603531
HP:0001263	HP:0001263	Global developmental delay	0	AP1S2 CL E G H	8905	85329				ORPHA	1	216	560	300629
HP:0001263	HP:0001263	Global developmental delay	0	AP1S2 CL E G H	8905	85329				ORPHA	1	219	560	300629
HP:0001263	HP:0001263	Global developmental delay	0	AP1S2 CL E G H	8905	85335				ORPHA	1	216	560	300629
HP:0001263	HP:0001263	Global developmental delay	0	AP1S2 CL E G H	8905	85335				ORPHA	1	219	560	300629
HP:0001263	HP:0001263	Global developmental delay	0	AP1S2 CL E G H	8905	304340	Pettigrew syndrome	304340	C0796254	OMIM	1	216	560	300629
HP:0001263	HP:0001263	Global developmental delay	0	AP1S2 CL E G H	8905	304340	Pettigrew syndrome	304340	C0796254	OMIM	1	219	560	300629
HP:0001263	HP:0001263	Global developmental delay	0	AP3B2 CL E G H	8120	442835				ORPHA	1	117	567	602166
HP:0001263	HP:0001263	Global developmental delay	0	AP3B2 CL E G H	8120	442835				ORPHA	1	288	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	117	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	288	567	602166
HP:0001263	HP:0001263	Global developmental delay	0	AP4B1 CL E G H	10717	280763				ORPHA	1	189	572	607245
HP:0001263	HP:0001263	Global developmental delay	0	AP4B1 CL E G H	10717	280763				ORPHA	1	254	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	189	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	254	572	607245
HP:0001263	HP:0001263	Global developmental delay	0	AP4E1 CL E G H	23431	280763				ORPHA	1	238	573	607244
HP:0001263	HP:0001263	Global developmental delay	0	AP4E1 CL E G H	23431	280763				ORPHA	1	332	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	238	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	332	573	607244
HP:0001263	HP:0001263	Global developmental delay	0	AP4M1 CL E G H	9179	280763				ORPHA	1	199	574	602296
HP:0001263	HP:0001263	Global developmental delay	0	AP4M1 CL E G H	9179	280763				ORPHA	1	264	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	199	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	264	574	602296
HP:0001263	HP:0001263	Global developmental delay	0	AP4S1 CL E G H	11154	280763				ORPHA	1	89	575	607243
HP:0001263	HP:0001263	Global developmental delay	0	AP4S1 CL E G H	11154	280763				ORPHA	1	110	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	89	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	110	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	713	22197	613653
HP:0001263	HP:0001263	Global developmental delay	0	AP5Z1 CL E G H	9907	613647	Spastic paraplegia 48, autosomal recessive	613647	C3150901	OMIM	1	780	22197	613653
HP:0001263	HP:0001263	Global developmental delay	0	APC2 CL E G H	10297	821				ORPHA	1	179	24036	612034
HP:0001263	HP:0001263	Global developmental delay	0	APC2 CL E G H	10297	821				ORPHA	1	194	24036	612034
HP:0001263	HP:0001263	Global developmental delay	0	APOPT1 CL E G H	84334	436271				ORPHA	1	125	20492	616003
HP:0001263	HP:0001263	Global developmental delay	0	APOPT1 CL E G H	84334	436271				ORPHA	1	129	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	125	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	129	20492	616003
HP:0001263	HP:0001263	Global developmental delay	0	APP CL E G H	351	324703				ORPHA	1	320	620	104760
HP:0001263	HP:0001263	Global developmental delay	0	APP CL E G H	351	324703				ORPHA	1	364	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	426	15853	605371
HP:0001263	HP:0001263	Global developmental delay	0	ARFGEF2 CL E G H	10564	608097	Heterotopia, periventricular, autosomal recessive	608097	C1842563	OMIM	1	459	15853	605371
HP:0001263	HP:0001263	Global developmental delay	0	ARG1 CL E G H	383	90				ORPHA	1	234	663	608313
HP:0001263	HP:0001263	Global developmental delay	0	ARG1 CL E G H	383	90				ORPHA	1	295	663	608313
HP:0001263	HP:0001263	Global developmental delay	0	ARG1 CL E G H	383	207800	Arginase deficiency	207800	C0268548	OMIM	1	234	663	608313
HP:0001263	HP:0001263	Global developmental delay	0	ARG1 CL E G H	383	207800	Arginase deficiency	207800	C0268548	OMIM	1	295	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	174	29216	610911
HP:0001263	HP:0001263	Global developmental delay	0	ARHGAP31 CL E G H	57514	100300	Adams-Oliver syndrome 1	100300	CN028867	OMIM	1	210	29216	610911
HP:0001263	HP:0001263	Global developmental delay	0	ARID1A CL E G H	8289	1465				ORPHA	1	383	11110	603024
HP:0001263	HP:0001263	Global developmental delay	0	ARID1A CL E G H	8289	1465				ORPHA	1	442	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	383	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	442	11110	603024
HP:0001263	HP:0001263	Global developmental delay	0	ARID1B CL E G H	57492	1465				ORPHA	1	866	18040	614556
HP:0001263	HP:0001263	Global developmental delay	0	ARID1B CL E G H	57492	1465				ORPHA	1	958	18040	614556
HP:0001263	HP:0001263	Global developmental delay	0	ARID1B CL E G H	57492	251056				ORPHA	1	866	18040	614556
HP:0001263	HP:0001263	Global developmental delay	0	ARID1B CL E G H	57492	251056				ORPHA	1	958	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	866	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	958	18040	614556
HP:0001263	HP:0001263	Global developmental delay	0	ARID2 CL E G H	196528	1465				ORPHA	1	179	18037	609539
HP:0001263	HP:0001263	Global developmental delay	0	ARID2 CL E G H	196528	1465				ORPHA	1	186	18037	609539
HP:0001263	HP:0001263	Global developmental delay	0	ARL13B CL E G H	200894	475	Acquired hypoprothrombinemia			ORPHA	1	184	25419	608922
HP:0001263	HP:0001263	Global developmental delay	0	ARL13B CL E G H	200894	475	Acquired hypoprothrombinemia			ORPHA	1	222	25419	608922
HP:0001263	HP:0001263	Global developmental delay	0	ARL13B CL E G H	200894	612291	Joubert syndrome 8	612291	C2676771	OMIM	1	184	25419	608922
HP:0001263	HP:0001263	Global developmental delay	0	ARL13B CL E G H	200894	612291	Joubert syndrome 8	612291	C2676771	OMIM	1	222	25419	608922
HP:0001263	HP:0001263	Global developmental delay	0	ARL3 CL E G H	403	475	Acquired hypoprothrombinemia			ORPHA	1	64	694	604695
HP:0001263	HP:0001263	Global developmental delay	0	ARL3 CL E G H	403	475	Acquired hypoprothrombinemia			ORPHA	1	90	694	604695
HP:0001263	HP:0001263	Global developmental delay	0	ARL3 CL E G H	403	618161	JOUBERT SYNDROME 35	618161		OMIM	1	64	694	604695
HP:0001263	HP:0001263	Global developmental delay	0	ARL3 CL E G H	403	618161	JOUBERT SYNDROME 35	618161		OMIM	1	90	694	604695
HP:0001263	HP:0001263	Global developmental delay	0	ARMC9 CL E G H	80210	475	Acquired hypoprothrombinemia			ORPHA	1	251	20730	617612
HP:0001263	HP:0001263	Global developmental delay	0	ARMC9 CL E G H	80210	475	Acquired hypoprothrombinemia			ORPHA	1	380	20730	617612
HP:0001263	HP:0001263	Global developmental delay	0	ARMC9 CL E G H	80210	617622	JOUBERT SYNDROME 30	617622	C4539937	OMIM	1	251	20730	617612
HP:0001263	HP:0001263	Global developmental delay	0	ARMC9 CL E G H	80210	617622	JOUBERT SYNDROME 30	617622	C4539937	OMIM	1	380	20730	617612
HP:0001263	HP:0001263	Global developmental delay	0	ARNT2 CL E G H	9915	615926	Webb-Dattani syndrome	615926	C4014708	OMIM	1	62	16876	606036
HP:0001263	HP:0001263	Global developmental delay	0	ARNT2 CL E G H	9915	615926	Webb-Dattani syndrome	615926	C4014708	OMIM	1	84	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		719	300180
HP:0001263	HP:0001263	Global developmental delay	0	ARV1 CL E G H	64801	442835				ORPHA	1	62	29561	611647
HP:0001263	HP:0001263	Global developmental delay	0	ARV1 CL E G H	64801	442835				ORPHA	1	65	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	62	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	65	29561	611647
HP:0001263	HP:0001263	Global developmental delay	0	ARVCF CL E G H	421	567				ORPHA	1	544	728	602269
HP:0001263	HP:0001263	Global developmental delay	0	ARVCF CL E G H	421	567				ORPHA	1	550	728	602269
HP:0001263	HP:0001263	Global developmental delay	0	ARX CL E G H	170302	452				ORPHA	1	565	18060	300382
HP:0001263	HP:0001263	Global developmental delay	0	ARX CL E G H	170302	452				ORPHA	1	624	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	565	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	624	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	156	19088	607999
HP:0001263	HP:0001263	Global developmental delay	0	ASH1L CL E G H	55870	617796	MENTAL RETARDATION, AUTOSOMAL DOMINANT 52	617796	C4540478	OMIM	1	173	19088	607999
HP:0001263	HP:0001263	Global developmental delay	0	ASL CL E G H	435	207900	Argininosuccinate lyase deficiency	207900	C0268547	OMIM	1	423	746	608310
HP:0001263	HP:0001263	Global developmental delay	0	ASL CL E G H	435	207900	Argininosuccinate lyase deficiency	207900	C0268547	OMIM	1	469	746	608310
HP:0001263	HP:0001263	Global developmental delay	0	ASPA CL E G H	443	314911				ORPHA	1	245	756	608034
HP:0001263	HP:0001263	Global developmental delay	0	ASPA CL E G H	443	314911				ORPHA	1	281	756	608034
HP:0001263	HP:0001263	Global developmental delay	0	ASPM CL E G H	259266	2512				ORPHA	1	920	19048	605481
HP:0001263	HP:0001263	Global developmental delay	0	ASPM CL E G H	259266	2512				ORPHA	1	1103	19048	605481
HP:0001263	HP:0001263	Global developmental delay	0	ASS1 CL E G H	445	215700	Citrullinemia type I	215700	C0175683	OMIM	1	481	758	603470
HP:0001263	HP:0001263	Global developmental delay	0	ASS1 CL E G H	445	215700	Citrullinemia type I	215700	C0175683	OMIM	1	517	758	603470
HP:0001263	HP:0001263	Global developmental delay	0	ASXL1 CL E G H	171023	97297				ORPHA	1	298	18318	612990
HP:0001263	HP:0001263	Global developmental delay	0	ASXL1 CL E G H	171023	97297				ORPHA	1	388	18318	612990
HP:0001263	HP:0001263	Global developmental delay	0	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	298	18318	612990
HP:0001263	HP:0001263	Global developmental delay	0	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	388	18318	612990
HP:0001263	HP:0001263	Global developmental delay	0	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	111	23805	612991
HP:0001263	HP:0001263	Global developmental delay	0	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	170	23805	612991
HP:0001263	HP:0001263	Global developmental delay	0	ATAD1 CL E G H	84896	618011	HYPEREKPLEXIA 4	618011	CN248518	OMIM	1	27	25903	614452
HP:0001263	HP:0001263	Global developmental delay	0	ATAD1 CL E G H	84896	618011	HYPEREKPLEXIA 4	618011	CN248518	OMIM	1	76	25903	614452
HP:0001263	HP:0001263	Global developmental delay	0	ATAD3A CL E G H	55210	496790				ORPHA	1	250	25567	612316
HP:0001263	HP:0001263	Global developmental delay	0	ATAD3A CL E G H	55210	496790				ORPHA	1	264	25567	612316
HP:0001263	HP:0001263	Global developmental delay	0	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	250	25567	612316
HP:0001263	HP:0001263	Global developmental delay	0	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	264	25567	612316
HP:0001263	HP:0001263	Global developmental delay	0	ATCAY CL E G H	85300	94122				ORPHA	1	175	779	608179
HP:0001263	HP:0001263	Global developmental delay	0	ATCAY CL E G H	85300	94122				ORPHA	1	179	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	175	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	179	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	33	589	604261
HP:0001263	HP:0001263	Global developmental delay	0	ATP1A1 CL E G H	476	618314	618314	618314		OMIM	1	86	799	182310
HP:0001263	HP:0001263	Global developmental delay	0	ATP1A1 CL E G H	476	618314	618314	618314		OMIM	1	131	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	625	801	182350
HP:0001263	HP:0001263	Global developmental delay	0	ATP1A3 CL E G H	478	614820	Alternating hemiplegia of childhood 2	614820	C3553788	OMIM	1	687	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	42	837	603150
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	44	837	603150
HP:0001263	HP:0001263	Global developmental delay	0	ATP6V0A2 CL E G H	23545	2834				ORPHA	1	417	18481	611716
HP:0001263	HP:0001263	Global developmental delay	0	ATP6V0A2 CL E G H	23545	2834				ORPHA	1	458	18481	611716
HP:0001263	HP:0001263	Global developmental delay	0	ATP6V0A2 CL E G H	23545	357074				ORPHA	1	417	18481	611716
HP:0001263	HP:0001263	Global developmental delay	0	ATP6V0A2 CL E G H	23545	357074				ORPHA	1	458	18481	611716
HP:0001263	HP:0001263	Global developmental delay	0	ATP6V1A CL E G H	523	357074				ORPHA	1	79	851	607027
HP:0001263	HP:0001263	Global developmental delay	0	ATP6V1A CL E G H	523	357074				ORPHA	1	93	851	607027
HP:0001263	HP:0001263	Global developmental delay	0	ATP6V1A CL E G H	523	442835				ORPHA	1	79	851	607027
HP:0001263	HP:0001263	Global developmental delay	0	ATP6V1A CL E G H	523	442835				ORPHA	1	93	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	79	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	93	851	607027
HP:0001263	HP:0001263	Global developmental delay	0	ATP6V1E1 CL E G H	529	357074				ORPHA	1	160	857	108746
HP:0001263	HP:0001263	Global developmental delay	0	ATP6V1E1 CL E G H	529	357074				ORPHA	1	168	857	108746
HP:0001263	HP:0001263	Global developmental delay	0	ATP7A CL E G H	538	198				ORPHA	1	897	869	300011
HP:0001263	HP:0001263	Global developmental delay	0	ATP7A CL E G H	538	198				ORPHA	1	1003	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	209	18802	608918
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	219	18802	608918
HP:0001263	HP:0001263	Global developmental delay	0	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1103	886	300032
HP:0001263	HP:0001263	Global developmental delay	0	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1217	886	300032
HP:0001263	HP:0001263	Global developmental delay	0	ATXN7 CL E G H	6314	94147				ORPHA	1	37	10560	607640
HP:0001263	HP:0001263	Global developmental delay	0	ATXN7 CL E G H	6314	94147				ORPHA	1	39	10560	607640
HP:0001263	HP:0001263	Global developmental delay	0	AUH CL E G H	549	67046				ORPHA	1	145	890	600529
HP:0001263	HP:0001263	Global developmental delay	0	AUH CL E G H	549	67046				ORPHA	1	177	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	439	14262	607270
HP:0001263	HP:0001263	Global developmental delay	0	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	454	14262	607270
HP:0001263	HP:0001263	Global developmental delay	0	B3GALNT2 CL E G H	148789	899				ORPHA	1	343	28596	610194
HP:0001263	HP:0001263	Global developmental delay	0	B3GALNT2 CL E G H	148789	899				ORPHA	1	411	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	343	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	411	28596	610194
HP:0001263	HP:0001263	Global developmental delay	0	B3GALT6 CL E G H	126792	75496				ORPHA	1	281	17978	615291
HP:0001263	HP:0001263	Global developmental delay	0	B3GALT6 CL E G H	126792	75496				ORPHA	1	337	17978	615291
HP:0001263	HP:0001263	Global developmental delay	0	B3GLCT CL E G H	145173	709				ORPHA	1	226	20207	610308
HP:0001263	HP:0001263	Global developmental delay	0	B3GLCT CL E G H	145173	709				ORPHA	1	248	20207	610308
HP:0001263	HP:0001263	Global developmental delay	0	B3GLCT CL E G H	145173	261540	Peters plus syndrome	261540	C0796012	OMIM	1	226	20207	610308
HP:0001263	HP:0001263	Global developmental delay	0	B3GLCT CL E G H	145173	261540	Peters plus syndrome	261540	C0796012	OMIM	1	248	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	141	924	137060
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	146	924	137060
HP:0001263	HP:0001263	Global developmental delay	0	B4GALT7 CL E G H	11285	75496				ORPHA	1	175	930	604327
HP:0001263	HP:0001263	Global developmental delay	0	B4GALT7 CL E G H	11285	75496				ORPHA	1	237	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	175	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	237	930	604327
HP:0001263	HP:0001263	Global developmental delay	0	B4GAT1 CL E G H	11041	899				ORPHA	1	122	15685	605517
HP:0001263	HP:0001263	Global developmental delay	0	B4GAT1 CL E G H	11041	899				ORPHA	1	151	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	122	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	151	15685	605517
HP:0001263	HP:0001263	Global developmental delay	0	B9D1 CL E G H	27077	475	Acquired hypoprothrombinemia			ORPHA	1	196	24123	614144
HP:0001263	HP:0001263	Global developmental delay	0	B9D1 CL E G H	27077	475	Acquired hypoprothrombinemia			ORPHA	1	230	24123	614144
HP:0001263	HP:0001263	Global developmental delay	0	B9D1 CL E G H	27077	617120	Joubert syndrome 27	617120	C4310706	OMIM	1	196	24123	614144
HP:0001263	HP:0001263	Global developmental delay	0	B9D1 CL E G H	27077	617120	Joubert syndrome 27	617120	C4310706	OMIM	1	230	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	491	966	209901
HP:0001263	HP:0001263	Global developmental delay	0	BBS1 CL E G H	582	209900	Bardet-Biedl syndrome 1	209900	C2936862	OMIM	1	582	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	282	16695	300398
HP:0001263	HP:0001263	Global developmental delay	0	BCAP31 CL E G H	10134	300475	Chromosome Xq28 deletion syndrome	300475	C1845408	OMIM	1	301	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	125	13221	606557
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	129	13221	606557
HP:0001263	HP:0001263	Global developmental delay	0	BCL11B CL E G H	64919	617237	Immunodeficiency 49	617237	C4310656	OMIM	1	118	13222	606558
HP:0001263	HP:0001263	Global developmental delay	0	BCL11B CL E G H	64919	617237	Immunodeficiency 49	617237	C4310656	OMIM	1	197	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	118	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	197	13222	606558
HP:0001263	HP:0001263	Global developmental delay	0	BCR CL E G H	613	261330				ORPHA	1	214	1014	151410
HP:0001263	HP:0001263	Global developmental delay	0	BCR CL E G H	613	261330				ORPHA	1	217	1014	151410
HP:0001263	HP:0001263	Global developmental delay	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	249	1020	603647
HP:0001263	HP:0001263	Global developmental delay	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	279	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	249	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	279	1020	603647
HP:0001263	HP:0001263	Global developmental delay	0	BMP2 CL E G H	650	261295				ORPHA	1	92	1069	112261
HP:0001263	HP:0001263	Global developmental delay	0	BMP2 CL E G H	650	261295				ORPHA	1	111	1069	112261
HP:0001263	HP:0001263	Global developmental delay	0	BMP4 CL E G H	652	139471				ORPHA	1	112	1071	112262
HP:0001263	HP:0001263	Global developmental delay	0	BMP4 CL E G H	652	139471				ORPHA	1	129	1071	112262
HP:0001263	HP:0001263	Global developmental delay	0	BMPER CL E G H	168667	608022	Diaphanospondylodysostosis	608022	C1842691	OMIM	1	174	24154	608699
HP:0001263	HP:0001263	Global developmental delay	0	BMPER CL E G H	168667	608022	Diaphanospondylodysostosis	608022	C1842691	OMIM	1	206	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	64	24415	613183
HP:0001263	HP:0001263	Global developmental delay	0	BOLA3 CL E G H	388962	614299	Multiple mitochondrial dysfunctions syndrome 2	614299	C3280378	OMIM	1	70	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	129	3581	601819
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	139	3581	601819
HP:0001263	HP:0001263	Global developmental delay	0	BRAF CL E G H	673	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	618	1097	164757
HP:0001263	HP:0001263	Global developmental delay	0	BRAF CL E G H	673	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	680	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	725	21701	614506
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	847	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	725	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	847	21701	614506
HP:0001263	HP:0001263	Global developmental delay	0	BRCA1 CL E G H	672	84				ORPHA	1	12207	1100	113705
HP:0001263	HP:0001263	Global developmental delay	0	BRCA1 CL E G H	672	84				ORPHA	1	12586	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	12207	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	12586	1100	113705
HP:0001263	HP:0001263	Global developmental delay	0	BRCA2 CL E G H	675	84				ORPHA	1	13912	1101	600185
HP:0001263	HP:0001263	Global developmental delay	0	BRCA2 CL E G H	675	84				ORPHA	1	14742	1101	600185
HP:0001263	HP:0001263	Global developmental delay	0	BRF1 CL E G H	2972	616202	Cerebellofaciodental syndrome	616202	C4015495	OMIM	1	142	11551	604902
HP:0001263	HP:0001263	Global developmental delay	0	BRF1 CL E G H	2972	616202	Cerebellofaciodental syndrome	616202	C4015495	OMIM	1	158	11551	604902
HP:0001263	HP:0001263	Global developmental delay	0	BRIP1 CL E G H	83990	84				ORPHA	1	3464	20473	605882
HP:0001263	HP:0001263	Global developmental delay	0	BRIP1 CL E G H	83990	84				ORPHA	1	3778	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	3464	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	3778	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	160	14255	602410
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	173	14255	602410
HP:0001263	HP:0001263	Global developmental delay	0	BTD CL E G H	686	79241				ORPHA	1	366	1122	609019
HP:0001263	HP:0001263	Global developmental delay	0	BTD CL E G H	686	79241				ORPHA	1	409	1122	609019
HP:0001263	HP:0001263	Global developmental delay	0	BTD CL E G H	686	253260	Biotinidase deficiency	253260	C0220754	OMIM	1	366	1122	609019
HP:0001263	HP:0001263	Global developmental delay	0	BTD CL E G H	686	253260	Biotinidase deficiency	253260	C0220754	OMIM	1	409	1122	609019
HP:0001263	HP:0001263	Global developmental delay	0	BUB1 CL E G H	699	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	86	1148	602452
HP:0001263	HP:0001263	Global developmental delay	0	BUB1 CL E G H	699	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	88	1148	602452
HP:0001263	HP:0001263	Global developmental delay	0	BUB1B CL E G H	701	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	511	1149	602860
HP:0001263	HP:0001263	Global developmental delay	0	BUB1B CL E G H	701	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	617	1149	602860
HP:0001263	HP:0001263	Global developmental delay	0	BUB3 CL E G H	9184	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	51	1151	603719
HP:0001263	HP:0001263	Global developmental delay	0	C12orf57 CL E G H	113246	1777				ORPHA	1	199	29521	615140
HP:0001263	HP:0001263	Global developmental delay	0	C12orf57 CL E G H	113246	1777				ORPHA	1	208	29521	615140
HP:0001263	HP:0001263	Global developmental delay	0	C12orf57 CL E G H	113246	218340	Temtamy syndrome	218340	C1857512	OMIM	1	199	29521	615140
HP:0001263	HP:0001263	Global developmental delay	0	C12orf57 CL E G H	113246	218340	Temtamy syndrome	218340	C1857512	OMIM	1	208	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		26784	613541
HP:0001263	HP:0001263	Global developmental delay	0	CA2 CL E G H	760	2785				ORPHA	1	104	1373	611492
HP:0001263	HP:0001263	Global developmental delay	0	CA2 CL E G H	760	2785				ORPHA	1	119	1373	611492
HP:0001263	HP:0001263	Global developmental delay	0	CACNA1A CL E G H	773	442835				ORPHA	1	2047	1388	601011
HP:0001263	HP:0001263	Global developmental delay	0	CACNA1A CL E G H	773	442835				ORPHA	1	2326	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	2047	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	2326	1388	601011
HP:0001263	HP:0001263	Global developmental delay	0	CACNA1C CL E G H	775	601005	Timothy syndrome	601005	C1832916	OMIM	1	1658	1390	114205
HP:0001263	HP:0001263	Global developmental delay	0	CACNA1C CL E G H	775	601005	Timothy syndrome	601005	C1832916	OMIM	1	1830	1390	114205
HP:0001263	HP:0001263	Global developmental delay	0	CACNA1D CL E G H	776	369929				ORPHA	1	477	1391	114206
HP:0001263	HP:0001263	Global developmental delay	0	CACNA1D CL E G H	776	369929				ORPHA	1	744	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	477	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	744	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	357	1394	604065
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	374	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	218	1424	114010
HP:0001263	HP:0001263	Global developmental delay	0	CAD CL E G H	790	616457	Epileptic encephalopathy, early infantile, 50	616457	C4225320	OMIM	1	562	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	56	1460	114078
HP:0001263	HP:0001263	Global developmental delay	0	CAMK2A CL E G H	815	617798	MENTAL RETARDATION, AUTOSOMAL DOMINANT 53	617798	C4540481	OMIM	1	62	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	56	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	62	1460	114078
HP:0001263	HP:0001263	Global developmental delay	0	CAMKMT CL E G H	79823	163693				ORPHA	1	32	26276	609559
HP:0001263	HP:0001263	Global developmental delay	0	CAMKMT CL E G H	79823	163693				ORPHA	1	33	26276	609559
HP:0001263	HP:0001263	Global developmental delay	0	CAMTA1 CL E G H	23261	314647				ORPHA	1	284	18806	611501
HP:0001263	HP:0001263	Global developmental delay	0	CAMTA1 CL E G H	23261	314647				ORPHA	1	298	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	284	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	298	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	531	25695	612800
HP:0001263	HP:0001263	Global developmental delay	0	CARS2 CL E G H	79587	616672	Combined oxidative phosphorylation deficiency 27	616672	C4225251	OMIM	1	625	25695	612800
HP:0001263	HP:0001263	Global developmental delay	0	CASK CL E G H	8573	300422	FG syndrome 4	300422	CN033933	OMIM	1	583	1497	300172
HP:0001263	HP:0001263	Global developmental delay	0	CASK CL E G H	8573	300422	FG syndrome 4	300422	CN033933	OMIM	1	633	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	583	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	633	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	706	1541	165360
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	858	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	792	1550	613381
HP:0001263	HP:0001263	Global developmental delay	0	CBS CL E G H	875	236200	Homocystinuria due to CBS deficiency	236200	C3150344	OMIM	1	856	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	169	30237	610055
HP:0001263	HP:0001263	Global developmental delay	0	CC2D1A CL E G H	54862	608443	Mental retardation, autosomal recessive 3	608443	C1838023	OMIM	1	175	30237	610055
HP:0001263	HP:0001263	Global developmental delay	0	CC2D2A CL E G H	57545	2318				ORPHA	1	881	29253	612013
HP:0001263	HP:0001263	Global developmental delay	0	CC2D2A CL E G H	57545	2318				ORPHA	1	1064	29253	612013
HP:0001263	HP:0001263	Global developmental delay	0	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	881	29253	612013
HP:0001263	HP:0001263	Global developmental delay	0	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1064	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	60	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	242	28909	300859
HP:0001263	HP:0001263	Global developmental delay	0	CCDC22 CL E G H	28952	300963	Ritscher-schinzel syndrome 2	300963	C4225419	OMIM	1	250	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	242	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	250	28909	300859
HP:0001263	HP:0001263	Global developmental delay	0	CCDC88A CL E G H	55704	617507	PEHO-like syndrome	617507	C1850056	OMIM	1	67	25523	609736
HP:0001263	HP:0001263	Global developmental delay	0	CCDC88A CL E G H	55704	617507	PEHO-like syndrome	617507	C1850056	OMIM	1	322	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	110	1583	123833
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	117	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	34	1596	603544
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	37	1596	603544
HP:0001263	HP:0001263	Global developmental delay	0	CD96 CL E G H	10225	211750	C syndrome	211750	C0796095	OMIM	1	56	16892	606037
HP:0001263	HP:0001263	Global developmental delay	0	CD96 CL E G H	10225	211750	C syndrome	211750	C0796095	OMIM	1	62	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	500	1739	603465
HP:0001263	HP:0001263	Global developmental delay	0	CDC45 CL E G H	8318	617063	Meier-gorlin syndrome 7	617063	C4310738	OMIM	1	542	1739	603465
HP:0001263	HP:0001263	Global developmental delay	0	CDCA7 CL E G H	83879	2268				ORPHA	1	56	14628	609937
HP:0001263	HP:0001263	Global developmental delay	0	CDCA7 CL E G H	83879	2268				ORPHA	1	103	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	56	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	103	14628	609937
HP:0001263	HP:0001263	Global developmental delay	0	CDH11 CL E G H	1009	211380	Brachioskeletogenital syndrome	211380	C0809936	OMIM	1	52	1750	600023
HP:0001263	HP:0001263	Global developmental delay	0	CDH11 CL E G H	1009	211380	Brachioskeletogenital syndrome	211380	C0809936	OMIM	1	59	1750	600023
HP:0001263	HP:0001263	Global developmental delay	0	CDH23 CL E G H	64072	231169				ORPHA	1	2612	13733	605516
HP:0001263	HP:0001263	Global developmental delay	0	CDH23 CL E G H	64072	231169				ORPHA	1	3075	13733	605516
HP:0001263	HP:0001263	Global developmental delay	0	CDK10 CL E G H	8558	617694	AL KAISSI SYNDROME	617694	C4540156	OMIM	1	90	1770	603464
HP:0001263	HP:0001263	Global developmental delay	0	CDK10 CL E G H	8558	617694	AL KAISSI SYNDROME	617694	C4540156	OMIM	1	94	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	191	1733	603309
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	210	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	77	1774	123831
HP:0001263	HP:0001263	Global developmental delay	0	CDK5 CL E G H	1020	616342	Lissencephaly 7 with cerebellar hypoplasia	616342	C4225359	OMIM	1	83	1774	123831
HP:0001263	HP:0001263	Global developmental delay	0	CDK5RAP2 CL E G H	55755	2512				ORPHA	1	454	18672	608201
HP:0001263	HP:0001263	Global developmental delay	0	CDK5RAP2 CL E G H	55755	2512				ORPHA	1	463	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	454	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	463	18672	608201
HP:0001263	HP:0001263	Global developmental delay	0	CDK6 CL E G H	1021	2512				ORPHA	1	45	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	1270	11411	300203
HP:0001263	HP:0001263	Global developmental delay	0	CDKL5 CL E G H	6792	300672	Early infantile epileptic encephalopathy 2	300672	C1839333	OMIM	1	1399	11411	300203
HP:0001263	HP:0001263	Global developmental delay	0	CDON CL E G H	50937	614226	Holoprosencephaly 11	614226	C3280215	OMIM	1	489	17104	608707
HP:0001263	HP:0001263	Global developmental delay	0	CDON CL E G H	50937	614226	Holoprosencephaly 11	614226	C3280215	OMIM	1	518	17104	608707
HP:0001263	HP:0001263	Global developmental delay	0	CENPJ CL E G H	55835	2512				ORPHA	1	347	17272	609279
HP:0001263	HP:0001263	Global developmental delay	0	CENPJ CL E G H	55835	2512				ORPHA	1	399	17272	609279
HP:0001263	HP:0001263	Global developmental delay	0	CEP104 CL E G H	9731	475	Acquired hypoprothrombinemia			ORPHA	1	354	24866	616690
HP:0001263	HP:0001263	Global developmental delay	0	CEP104 CL E G H	9731	475	Acquired hypoprothrombinemia			ORPHA	1	384	24866	616690
HP:0001263	HP:0001263	Global developmental delay	0	CEP120 CL E G H	153241	220493				ORPHA	1	210	26690	613446
HP:0001263	HP:0001263	Global developmental delay	0	CEP120 CL E G H	153241	220493				ORPHA	1	250	26690	613446
HP:0001263	HP:0001263	Global developmental delay	0	CEP120 CL E G H	153241	475	Acquired hypoprothrombinemia			ORPHA	1	210	26690	613446
HP:0001263	HP:0001263	Global developmental delay	0	CEP120 CL E G H	153241	475	Acquired hypoprothrombinemia			ORPHA	1	250	26690	613446
HP:0001263	HP:0001263	Global developmental delay	0	CEP120 CL E G H	153241	617761	JOUBERT SYNDROME 31	617761	C4540355	OMIM	1	210	26690	613446
HP:0001263	HP:0001263	Global developmental delay	0	CEP120 CL E G H	153241	617761	JOUBERT SYNDROME 31	617761	C4540355	OMIM	1	250	26690	613446
HP:0001263	HP:0001263	Global developmental delay	0	CEP135 CL E G H	9662	2512				ORPHA	1	176	29086	611423
HP:0001263	HP:0001263	Global developmental delay	0	CEP135 CL E G H	9662	2512				ORPHA	1	245	29086	611423
HP:0001263	HP:0001263	Global developmental delay	0	CEP152 CL E G H	22995	2512				ORPHA	1	334	29298	613529
HP:0001263	HP:0001263	Global developmental delay	0	CEP152 CL E G H	22995	2512				ORPHA	1	404	29298	613529
HP:0001263	HP:0001263	Global developmental delay	0	CEP164 CL E G H	22897	3156				ORPHA	1	498	29182	614848
HP:0001263	HP:0001263	Global developmental delay	0	CEP164 CL E G H	22897	3156				ORPHA	1	692	29182	614848
HP:0001263	HP:0001263	Global developmental delay	0	CEP290 CL E G H	80184	2318				ORPHA	1	1535	29021	610142
HP:0001263	HP:0001263	Global developmental delay	0	CEP290 CL E G H	80184	2318				ORPHA	1	1902	29021	610142
HP:0001263	HP:0001263	Global developmental delay	0	CEP290 CL E G H	80184	3156				ORPHA	1	1535	29021	610142
HP:0001263	HP:0001263	Global developmental delay	0	CEP290 CL E G H	80184	3156				ORPHA	1	1902	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	1535	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	1902	29021	610142
HP:0001263	HP:0001263	Global developmental delay	0	CEP41 CL E G H	95681	220493				ORPHA	1	297	12370	610523
HP:0001263	HP:0001263	Global developmental delay	0	CEP41 CL E G H	95681	220493				ORPHA	1	347	12370	610523
HP:0001263	HP:0001263	Global developmental delay	0	CEP41 CL E G H	95681	475	Acquired hypoprothrombinemia			ORPHA	1	297	12370	610523
HP:0001263	HP:0001263	Global developmental delay	0	CEP41 CL E G H	95681	475	Acquired hypoprothrombinemia			ORPHA	1	347	12370	610523
HP:0001263	HP:0001263	Global developmental delay	0	CEP41 CL E G H	95681	614464	Joubert syndrome 15	614464	C3280897	OMIM	1	297	12370	610523
HP:0001263	HP:0001263	Global developmental delay	0	CEP41 CL E G H	95681	614464	Joubert syndrome 15	614464	C3280897	OMIM	1	347	12370	610523
HP:0001263	HP:0001263	Global developmental delay	0	CEP57 CL E G H	9702	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	212	30794	607951
HP:0001263	HP:0001263	Global developmental delay	0	CEP57 CL E G H	9702	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	275	30794	607951
HP:0001263	HP:0001263	Global developmental delay	0	CEP63 CL E G H	80254	2512				ORPHA	1	167	25815	614724
HP:0001263	HP:0001263	Global developmental delay	0	CEP63 CL E G H	80254	2512				ORPHA	1	200	25815	614724
HP:0001263	HP:0001263	Global developmental delay	0	CEP63 CL E G H	80254	614728	Seckel syndrome 6	614728	C3553582	OMIM	1	167	25815	614724
HP:0001263	HP:0001263	Global developmental delay	0	CEP63 CL E G H	80254	614728	Seckel syndrome 6	614728	C3553582	OMIM	1	200	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	191	20311	616327
HP:0001263	HP:0001263	Global developmental delay	0	CHAMP1 CL E G H	283489	616579	Mental retardation, autosomal dominant 40	616579	C4225275	OMIM	1	202	20311	616327
HP:0001263	HP:0001263	Global developmental delay	0	CHD1 CL E G H	1105	529965				ORPHA	1	67	1915	602118
HP:0001263	HP:0001263	Global developmental delay	0	CHD1 CL E G H	1105	529965				ORPHA	1	74	1915	602118
HP:0001263	HP:0001263	Global developmental delay	0	CHD1 CL E G H	1105	617682	PILAROWSKI-BJORNSSON SYNDROME	617682	C4540131	OMIM	1	67	1915	602118
HP:0001263	HP:0001263	Global developmental delay	0	CHD1 CL E G H	1105	617682	PILAROWSKI-BJORNSSON SYNDROME	617682	C4540131	OMIM	1	74	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	1163	1917	602119
HP:0001263	HP:0001263	Global developmental delay	0	CHD2 CL E G H	1106	615369	Epileptic encephalopathy, childhood-onset	615369	C3809278	OMIM	1	1326	1917	602119
HP:0001263	HP:0001263	Global developmental delay	0	CHD3 CL E G H	1107	618205	SNIJDERS BLOK-CAMPEAU SYNDROME	618205		OMIM	1	141	1918	602120
HP:0001263	HP:0001263	Global developmental delay	0	CHD3 CL E G H	1107	618205	SNIJDERS BLOK-CAMPEAU SYNDROME	618205		OMIM	1	156	1918	602120
HP:0001263	HP:0001263	Global developmental delay	0	CHD7 CL E G H	55636	138				ORPHA	1	1752	20626	608892
HP:0001263	HP:0001263	Global developmental delay	0	CHD7 CL E G H	55636	138				ORPHA	1	1980	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	172	8740	164010
HP:0001263	HP:0001263	Global developmental delay	0	CHMP1A CL E G H	5119	614961	Pontocerebellar hypoplasia type 8	614961	C3554209	OMIM	1	183	8740	164010
HP:0001263	HP:0001263	Global developmental delay	0	CHRNA7 CL E G H	1139	199318				ORPHA	1	340	1960	118511
HP:0001263	HP:0001263	Global developmental delay	0	CHRNA7 CL E G H	1139	199318				ORPHA	1	346	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	135	24464	608429
HP:0001263	HP:0001263	Global developmental delay	0	CHST14 CL E G H	113189	601776	Ehlers-Danlos syndrome, musculocontractural type	601776	C1866294	OMIM	1	164	24464	608429
HP:0001263	HP:0001263	Global developmental delay	0	CIB2 CL E G H	10518	231169				ORPHA	1	137	24579	605564
HP:0001263	HP:0001263	Global developmental delay	0	CIB2 CL E G H	10518	231169				ORPHA	1	163	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	191	14214	612082
HP:0001263	HP:0001263	Global developmental delay	0	CIC CL E G H	23152	617600	MENTAL RETARDATION, AUTOSOMAL DOMINANT 45	617600	C4539848	OMIM	1	212	14214	612082
HP:0001263	HP:0001263	Global developmental delay	0	CIT CL E G H	11113	2512				ORPHA	1	319	1985	605629
HP:0001263	HP:0001263	Global developmental delay	0	CIT CL E G H	11113	2512				ORPHA	1	329	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	319	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	329	1985	605629
HP:0001263	HP:0001263	Global developmental delay	0	CKAP2L CL E G H	150468	3255	Limb scalp and skull defects			ORPHA	1	78	26877	616174
HP:0001263	HP:0001263	Global developmental delay	0	CKAP2L CL E G H	150468	3255	Limb scalp and skull defects			ORPHA	1	94	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	479	2022	302910
HP:0001263	HP:0001263	Global developmental delay	0	CLCN4 CL E G H	1183	300114	Mental retardation 49, X-linked	300114	C3887959	OMIM	1	512	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	246	2063	300138
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	254	2063	300138
HP:0001263	HP:0001263	Global developmental delay	0	CLP1 CL E G H	10978	411493				ORPHA	1	40	16999	608757
HP:0001263	HP:0001263	Global developmental delay	0	CLP1 CL E G H	10978	411493				ORPHA	1	49	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	40	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	49	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	337	30664	616254
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	404	30664	616254
HP:0001263	HP:0001263	Global developmental delay	0	CLTC CL E G H	1213	442835				ORPHA	1	102	2092	118955
HP:0001263	HP:0001263	Global developmental delay	0	CLTC CL E G H	1213	442835				ORPHA	1	202	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	102	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	202	2092	118955
HP:0001263	HP:0001263	Global developmental delay	0	CNKSR2 CL E G H	22866	442835				ORPHA	1	249	19701	300724
HP:0001263	HP:0001263	Global developmental delay	0	CNKSR2 CL E G H	22866	442835				ORPHA	1	256	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	249	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	256	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	176	103	607803
HP:0001263	HP:0001263	Global developmental delay	0	CNNM2 CL E G H	54805	616418	Hypomagnesemia, seizures, and mental retardation	616418	C4225333	OMIM	1	191	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	1339	13830	604569
HP:0001263	HP:0001263	Global developmental delay	0	CNTNAP2 CL E G H	26047	610042	Pitt-Hopkins-like syndrome 1	610042	C2750246	OMIM	1	1505	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	27	25716	615623
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	31	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	107	29932	609855
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	150	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	181	6545	606973
HP:0001263	HP:0001263	Global developmental delay	0	COG1 CL E G H	9382	611209	COG1 congenital disorder of glycosylation	611209	C1970016	OMIM	1	248	6545	606973
HP:0001263	HP:0001263	Global developmental delay	0	COG2 CL E G H	22796	435934				ORPHA	1	147	6546	606974
HP:0001263	HP:0001263	Global developmental delay	0	COG2 CL E G H	22796	435934				ORPHA	1	159	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	147	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	159	6546	606974
HP:0001263	HP:0001263	Global developmental delay	0	COG4 CL E G H	25839	263501				ORPHA	1	221	18620	606976
HP:0001263	HP:0001263	Global developmental delay	0	COG4 CL E G H	25839	263501				ORPHA	1	247	18620	606976
HP:0001263	HP:0001263	Global developmental delay	0	COG4 CL E G H	25839	618150	SAUL-WILSON SYNDROME	618150		OMIM	1	221	18620	606976
HP:0001263	HP:0001263	Global developmental delay	0	COG4 CL E G H	25839	618150	SAUL-WILSON SYNDROME	618150		OMIM	1	247	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	281	18621	606977
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	297	18621	606977
HP:0001263	HP:0001263	Global developmental delay	0	COL3A1 CL E G H	1281	286	Imaizumi Kuroki syndrome			ORPHA	1	1935	2201	120180
HP:0001263	HP:0001263	Global developmental delay	0	COL3A1 CL E G H	1281	286	Imaizumi Kuroki syndrome			ORPHA	1	2083	2201	120180
HP:0001263	HP:0001263	Global developmental delay	0	COL4A1 CL E G H	1282	899				ORPHA	1	837	2202	120130
HP:0001263	HP:0001263	Global developmental delay	0	COL4A1 CL E G H	1282	899				ORPHA	1	1010	2202	120130
HP:0001263	HP:0001263	Global developmental delay	0	COL4A2 CL E G H	1284	614483	Porencephaly 2	614483	C3280970	OMIM	1	764	2203	120090
HP:0001263	HP:0001263	Global developmental delay	0	COL4A2 CL E G H	1284	614483	Porencephaly 2	614483	C3280970	OMIM	1	857	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		2205	604677
HP:0001263	HP:0001263	Global developmental delay	0	COL5A1 CL E G H	1289	286	Imaizumi Kuroki syndrome			ORPHA	1	2077	2209	120215
HP:0001263	HP:0001263	Global developmental delay	0	COL5A1 CL E G H	1289	286	Imaizumi Kuroki syndrome			ORPHA	1	2246	2209	120215
HP:0001263	HP:0001263	Global developmental delay	0	COLEC11 CL E G H	78989	265050	Carnevale syndrome	265050	C0796279	OMIM	1	62	17213	612502
HP:0001263	HP:0001263	Global developmental delay	0	COLEC11 CL E G H	78989	265050	Carnevale syndrome	265050	C0796279	OMIM	1	65	17213	612502
HP:0001263	HP:0001263	Global developmental delay	0	COLQ CL E G H	8292	98915				ORPHA	1	364	2226	603033
HP:0001263	HP:0001263	Global developmental delay	0	COLQ CL E G H	8292	98915				ORPHA	1	418	2226	603033
HP:0001263	HP:0001263	Global developmental delay	0	COMT CL E G H	1312	567				ORPHA	1	579	2228	116790
HP:0001263	HP:0001263	Global developmental delay	0	COMT CL E G H	1312	567				ORPHA	1	587	2228	116790
HP:0001263	HP:0001263	Global developmental delay	0	COPB2 CL E G H	9276	2512				ORPHA	1	51	2232	606990
HP:0001263	HP:0001263	Global developmental delay	0	COPB2 CL E G H	9276	2512				ORPHA	1	63	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	51	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	63	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	67	2244	601683
HP:0001263	HP:0001263	Global developmental delay	0	COQ7 CL E G H	10229	616733	Coenzyme Q10 deficiency, primary, 8	616733	C4225226	OMIM	1	107	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	127	25302	612837
HP:0001263	HP:0001263	Global developmental delay	0	COQ9 CL E G H	57017	614654	Coenzyme Q10 deficiency, primary, 5	614654	C3553374	OMIM	1	164	25302	612837
HP:0001263	HP:0001263	Global developmental delay	0	CORO1A CL E G H	11151	615401	Immunodeficiency 8	615401	C3809383	OMIM	1	260	2252	605000
HP:0001263	HP:0001263	Global developmental delay	0	CORO1A CL E G H	11151	615401	Immunodeficiency 8	615401	C3809383	OMIM	1	301	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	247	2260	602125
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	263	2260	602125
HP:0001263	HP:0001263	Global developmental delay	0	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	247	2260	602125
HP:0001263	HP:0001263	Global developmental delay	0	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	263	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	24	28216	614478
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	28	28216	614478
HP:0001263	HP:0001263	Global developmental delay	0	COX15 CL E G H	1355	255241				ORPHA	1	216	2263	603646
HP:0001263	HP:0001263	Global developmental delay	0	COX15 CL E G H	1355	255241				ORPHA	1	233	2263	603646
HP:0001263	HP:0001263	Global developmental delay	0	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	216	2263	603646
HP:0001263	HP:0001263	Global developmental delay	0	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	233	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	139	26970	614698
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	155	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	46	16232	607976
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	51	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	44	2280	124089
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	52	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	171	2291	300885
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	175	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	18	2294	123870
HP:0001263	HP:0001263	Global developmental delay	0	CPLANE1 CL E G H	65250	2754				ORPHA	1	824	25801	614571
HP:0001263	HP:0001263	Global developmental delay	0	CPLANE1 CL E G H	65250	2754				ORPHA	1	1239	25801	614571
HP:0001263	HP:0001263	Global developmental delay	0	CPLANE1 CL E G H	65250	475	Acquired hypoprothrombinemia			ORPHA	1	824	25801	614571
HP:0001263	HP:0001263	Global developmental delay	0	CPLANE1 CL E G H	65250	475	Acquired hypoprothrombinemia			ORPHA	1	1239	25801	614571
HP:0001263	HP:0001263	Global developmental delay	0	CPLANE1 CL E G H	65250	614615	Joubert syndrome 17	614615	C3553264	OMIM	1	824	25801	614571
HP:0001263	HP:0001263	Global developmental delay	0	CPLANE1 CL E G H	65250	614615	Joubert syndrome 17	614615	C3553264	OMIM	1	1239	25801	614571
HP:0001263	HP:0001263	Global developmental delay	0	CPLANE1 CL E G H	65250	277170	Orofaciodigital syndrome 6	277170	C2745997	OMIM	1	824	25801	614571
HP:0001263	HP:0001263	Global developmental delay	0	CPLANE1 CL E G H	65250	277170	Orofaciodigital syndrome 6	277170	C2745997	OMIM	1	1239	25801	614571
HP:0001263	HP:0001263	Global developmental delay	0	CPLX1 CL E G H	10815	352582				ORPHA	1	151	2309	605032
HP:0001263	HP:0001263	Global developmental delay	0	CPLX1 CL E G H	10815	352582				ORPHA	1	163	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	151	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	163	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	151	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	163	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	814	2323	608307
HP:0001263	HP:0001263	Global developmental delay	0	CPS1 CL E G H	1373	237300	Congenital hyperammonemia, type I	237300	C0751753	OMIM	1	910	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	124	30185	609262
HP:0001263	HP:0001263	Global developmental delay	0	CRBN CL E G H	51185	607417	Mental retardation, autosomal recessive 2	607417	C1843942	OMIM	1	132	30185	609262
HP:0001263	HP:0001263	Global developmental delay	0	CRKL CL E G H	1399	261330				ORPHA	1	398	2363	602007
HP:0001263	HP:0001263	Global developmental delay	0	CRKL CL E G H	1399	261330				ORPHA	1	406	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	177	2457	115440
HP:0001263	HP:0001263	Global developmental delay	0	CSNK2A1 CL E G H	1457	617062	Okur-chung neurodevelopmental syndrome	617062	C4310739	OMIM	1	182	2457	115440
HP:0001263	HP:0001263	Global developmental delay	0	CSPP1 CL E G H	79848	475	Acquired hypoprothrombinemia			ORPHA	1	476	26193	611654
HP:0001263	HP:0001263	Global developmental delay	0	CSPP1 CL E G H	79848	475	Acquired hypoprothrombinemia			ORPHA	1	687	26193	611654
HP:0001263	HP:0001263	Global developmental delay	0	CSPP1 CL E G H	79848	615636	Joubert syndrome 21	615636	C3810212	OMIM	1	476	26193	611654
HP:0001263	HP:0001263	Global developmental delay	0	CSPP1 CL E G H	79848	615636	Joubert syndrome 21	615636	C3810212	OMIM	1	687	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	174	2494	602618
HP:0001263	HP:0001263	Global developmental delay	0	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	187	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	729	26169	613129
HP:0001263	HP:0001263	Global developmental delay	0	CTC1 CL E G H	80169	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	918	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	190	13723	604167
HP:0001263	HP:0001263	Global developmental delay	0	CTCF CL E G H	10664	615502	Mental retardation, autosomal dominant 21	615502	C3809686	OMIM	1	201	13723	604167
HP:0001263	HP:0001263	Global developmental delay	0	CTDP1 CL E G H	9150	48431				ORPHA	1	323	2498	604927
HP:0001263	HP:0001263	Global developmental delay	0	CTDP1 CL E G H	9150	48431				ORPHA	1	348	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	323	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	348	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	90	2510	114025
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	93	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	269	2514	116806
HP:0001263	HP:0001263	Global developmental delay	0	CTNNB1 CL E G H	1499	615075	Mental retardation, autosomal dominant 19	615075	C3554449	OMIM	1	364	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	68	19347	610648
HP:0001263	HP:0001263	Global developmental delay	0	CUX2 CL E G H	23316	618141	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67	618141		OMIM	1	75	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	135	10664	617170
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	196	10664	617170
HP:0001263	HP:0001263	Global developmental delay	0	CWF19L1 CL E G H	55280	453521				ORPHA	1	59	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	59	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		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	134	2873	613213
HP:0001263	HP:0001263	Global developmental delay	0	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	144	2873	613213
HP:0001263	HP:0001263	Global developmental delay	0	CYFIP2 CL E G H	26999	442835				ORPHA	1	84	13760	606323
HP:0001263	HP:0001263	Global developmental delay	0	CYFIP2 CL E G H	26999	442835				ORPHA	1	175	13760	606323
HP:0001263	HP:0001263	Global developmental delay	0	CYP2U1 CL E G H	113612	320411				ORPHA	1	125	20582	610670
HP:0001263	HP:0001263	Global developmental delay	0	CYP2U1 CL E G H	113612	320411				ORPHA	1	172	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	331	28358	609186
HP:0001263	HP:0001263	Global developmental delay	0	D2HGDH CL E G H	728294	600721	D-2-hydroxyglutaric aciduria 1	600721	C3152055	OMIM	1	357	28358	609186
HP:0001263	HP:0001263	Global developmental delay	0	DAG1 CL E G H	1605	899				ORPHA	1	376	2666	128239
HP:0001263	HP:0001263	Global developmental delay	0	DAG1 CL E G H	1605	899				ORPHA	1	467	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	376	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	467	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	376	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	467	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	160	2701	120470
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	162	2701	120470
HP:0001263	HP:0001263	Global developmental delay	0	DCPS CL E G H	28960	616459	AL-RAQAD SYNDROME	616459	C4085595	OMIM	1	107	29812	610534
HP:0001263	HP:0001263	Global developmental delay	0	DCPS CL E G H	28960	616459	AL-RAQAD SYNDROME	616459	C4085595	OMIM	1	110	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	220	2719	107930
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	300	2719	107930
HP:0001263	HP:0001263	Global developmental delay	0	DDHD2 CL E G H	23259	320380				ORPHA	1	192	29106	615003
HP:0001263	HP:0001263	Global developmental delay	0	DDHD2 CL E G H	23259	320380				ORPHA	1	230	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	192	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	230	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	154	2728	602202
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	179	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	190	2731	191311
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	225	2731	191311
HP:0001263	HP:0001263	Global developmental delay	0	DDX11 CL E G H	1663	613398	Warsaw breakage syndrome	613398	C3150658	OMIM	1	123	2736	601150
HP:0001263	HP:0001263	Global developmental delay	0	DDX11 CL E G H	1663	613398	Warsaw breakage syndrome	613398	C3150658	OMIM	1	126	2736	601150
HP:0001263	HP:0001263	Global developmental delay	0	DEAF1 CL E G H	10522	819				ORPHA	1	179	14677	602635
HP:0001263	HP:0001263	Global developmental delay	0	DEAF1 CL E G H	10522	819				ORPHA	1	311	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	179	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	311	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	179	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	311	14677	602635
HP:0001263	HP:0001263	Global developmental delay	0	DHCR7 CL E G H	1717	818				ORPHA	1	511	2860	602858
HP:0001263	HP:0001263	Global developmental delay	0	DHCR7 CL E G H	1717	818				ORPHA	1	546	2860	602858
HP:0001263	HP:0001263	Global developmental delay	0	DHDDS CL E G H	79947	442835				ORPHA	1	199	20603	608172
HP:0001263	HP:0001263	Global developmental delay	0	DHDDS CL E G H	79947	442835				ORPHA	1	256	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	277	2861	126060
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	343	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	218	23537	614984
HP:0001263	HP:0001263	Global developmental delay	0	DHTKD1 CL E G H	55526	204750	2-aminoadipic 2-oxoadipic aciduria	204750	C1859817	OMIM	1	337	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	49	16716	616423
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	58	16716	616423
HP:0001263	HP:0001263	Global developmental delay	0	DIS3L2 CL E G H	129563	2849				ORPHA	1	1249	28648	614184
HP:0001263	HP:0001263	Global developmental delay	0	DIS3L2 CL E G H	129563	2849				ORPHA	1	1505	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	1249	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	1505	28648	614184
HP:0001263	HP:0001263	Global developmental delay	0	DKC1 CL E G H	1736	3322				ORPHA	1	396	2890	300126
HP:0001263	HP:0001263	Global developmental delay	0	DKC1 CL E G H	1736	3322				ORPHA	1	426	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	396	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	426	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	168	2896	608770
HP:0001263	HP:0001263	Global developmental delay	0	DLAT CL E G H	1737	245348	Pyruvate dehydrogenase E2 deficiency	245348	C1855565	OMIM	1	199	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	329	2898	238331
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	355	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	241	2902	300189
HP:0001263	HP:0001263	Global developmental delay	0	DLG3 CL E G H	1741	300850	X-Linked mental retardation 90	300850	C3275443	OMIM	1	251	2902	300189
HP:0001263	HP:0001263	Global developmental delay	0	DMD CL E G H	1756	98896				ORPHA	1	5601	2928	300377
HP:0001263	HP:0001263	Global developmental delay	0	DMD CL E G H	1756	98896				ORPHA	1	6395	2928	300377
HP:0001263	HP:0001263	Global developmental delay	0	DNA2 CL E G H	1763	615807	Seckel syndrome 8	615807	C3891452	OMIM	1	223	2939	601810
HP:0001263	HP:0001263	Global developmental delay	0	DNA2 CL E G H	1763	615807	Seckel syndrome 8	615807	C3891452	OMIM	1	290	2939	601810
HP:0001263	HP:0001263	Global developmental delay	0	DNAJC21 CL E G H	134218	811	Balo disease			ORPHA	1	91	27030	617048
HP:0001263	HP:0001263	Global developmental delay	0	DNAJC21 CL E G H	134218	811	Balo disease			ORPHA	1	187	27030	617048
HP:0001263	HP:0001263	Global developmental delay	0	DNAJC21 CL E G H	134218	260400	Shwachman syndrome	260400	C0272170	OMIM	1	91	27030	617048
HP:0001263	HP:0001263	Global developmental delay	0	DNAJC21 CL E G H	134218	260400	Shwachman syndrome	260400	C0272170	OMIM	1	187	27030	617048
HP:0001263	HP:0001263	Global developmental delay	0	DNM1 CL E G H	1759	442835				ORPHA	1	459	2972	602377
HP:0001263	HP:0001263	Global developmental delay	0	DNM1 CL E G H	1759	442835				ORPHA	1	506	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	263	2973	603850
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	332	2973	603850
HP:0001263	HP:0001263	Global developmental delay	0	DNMT3B CL E G H	1789	2268				ORPHA	1	339	2979	602900
HP:0001263	HP:0001263	Global developmental delay	0	DNMT3B CL E G H	1789	2268				ORPHA	1	402	2979	602900
HP:0001263	HP:0001263	Global developmental delay	0	DOCK3 CL E G H	1795	618292	618292	618292		OMIM	1	43	2989	603123
HP:0001263	HP:0001263	Global developmental delay	0	DOCK3 CL E G H	1795	618292	618292	618292		OMIM	1	46	2989	603123
HP:0001263	HP:0001263	Global developmental delay	0	DOCK6 CL E G H	57572	614219</