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 delay (HP:0012758)

Parent Node:
Global developmental delay (HP:0001263)

..Starting node
..Profound global developmental delay (HP:0012736)

Term ID:

12736

Name:

Profound global developmental delay

Synonym:

Global developmental delay, profound; Psychomotor retardation, profound

Definition:

A profound delay in the achievement of motor or mental milestones in the domains of development of a child.

Comments:

Reference:

HP:0012736

Genes and Diseases:

Child Nodes:

Sister Nodes:

Mild global developmental delay (HP:0011342)

Moderate global developmental delay (HP:0011343)

Severe global developmental delay (HP:0011344)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012736	HP:0012736	Profound global developmental delay	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency		26
HP:0012736	HP:0012736	Profound global developmental delay	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17		1
HP:0012736	HP:0012736	Profound global developmental delay	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.	166
HP:0012736	HP:0012736	Profound global developmental delay	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.	17
HP:0012736	HP:0012736	Profound global developmental delay	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040281 - Very frequent	169
HP:0012736	HP:0012736	Profound global developmental delay	0	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay		48
HP:0012736	HP:0012736	Profound global developmental delay	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.	64
HP:0012736	HP:0012736	Profound global developmental delay	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies	.	4
HP:0012736	HP:0012736	Profound global developmental delay	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	.	6
HP:0012736	HP:0012736	Profound global developmental delay	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0012736	HP:0012736	Profound global developmental delay	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14	.	36
HP:0012736	HP:0012736	Profound global developmental delay	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0012736	HP:0012736	Profound global developmental delay	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0012736	HP:0012736	Profound global developmental delay	0	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria	HP:0040283 - Occasional	6
HP:0012736	HP:0012736	Profound global developmental delay	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040281 - Very frequent	108
HP:0012736	HP:0012736	Profound global developmental delay	0	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101		108
HP:0012736	HP:0012736	Profound global developmental delay	0	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	HP:0040282 - Frequent	434
HP:0012736	HP:0012736	Profound global developmental delay	0	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40		2
HP:0012736	HP:0012736	Profound global developmental delay	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0012736	HP:0012736	Profound global developmental delay	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	10
HP:0012736	HP:0012736	Profound global developmental delay	0	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy	HP:0040282 - Frequent	528
HP:0012736	HP:0012736	Profound global developmental delay	0	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures	.	31
HP:0012736	HP:0012736	Profound global developmental delay	0	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	.	2
HP:0012736	HP:0012736	Profound global developmental delay	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent	17
HP:0012736	HP:0012736	Profound global developmental delay	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	96
HP:0012736	HP:0012736	Profound global developmental delay	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.	96
HP:0012736	HP:0012736	Profound global developmental delay	0	NECAP1 CL E G H	25977	24539	OMIM:615833	Epileptic encephalopathy, early infantile, 21		1
HP:0012736	HP:0012736	Profound global developmental delay	0	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14		214
HP:0012736	HP:0012736	Profound global developmental delay	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75	.	14
HP:0012736	HP:0012736	Profound global developmental delay	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	169
HP:0012736	HP:0012736	Profound global developmental delay	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	75
HP:0012736	HP:0012736	Profound global developmental delay	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	4
HP:0012736	HP:0012736	Profound global developmental delay	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	65
HP:0012736	HP:0012736	Profound global developmental delay	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	66
HP:0012736	HP:0012736	Profound global developmental delay	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	46
HP:0012736	HP:0012736	Profound global developmental delay	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	59
HP:0012736	HP:0012736	Profound global developmental delay	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	62
HP:0012736	HP:0012736	Profound global developmental delay	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	82
HP:0012736	HP:0012736	Profound global developmental delay	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	106
HP:0012736	HP:0012736	Profound global developmental delay	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	47
HP:0012736	HP:0012736	Profound global developmental delay	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	99
HP:0012736	HP:0012736	Profound global developmental delay	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	98
HP:0012736	HP:0012736	Profound global developmental delay	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0012736	HP:0012736	Profound global developmental delay	0	PLEKHG2 CL E G H	64857	29515	OMIM:616763	Leukodystrophy and acquired microcephaly with or without dystonia	.	3
HP:0012736	HP:0012736	Profound global developmental delay	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040282 - Frequent	49
HP:0012736	HP:0012736	Profound global developmental delay	0	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	.	8
HP:0012736	HP:0012736	Profound global developmental delay	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040281 - Very frequent	27
HP:0012736	HP:0012736	Profound global developmental delay	0	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS		3
HP:0012736	HP:0012736	Profound global developmental delay	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0012736	HP:0012736	Profound global developmental delay	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	334
HP:0012736	HP:0012736	Profound global developmental delay	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040281 - Very frequent	143
HP:0012736	HP:0012736	Profound global developmental delay	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0012736	HP:0012736	Profound global developmental delay	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040281 - Very frequent	11
HP:0012736	HP:0012736	Profound global developmental delay	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type		93
HP:0012736	HP:0012736	Profound global developmental delay	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0012736	HP:0012736	Profound global developmental delay	0	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome	.	12
HP:0012736	HP:0012736	Profound global developmental delay	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2		23
HP:0012736	HP:0012736	Profound global developmental delay	0	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43		25
HP:0012736	HP:0012736	Profound global developmental delay	0	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations	.
HP:0012736	HP:0012736	Profound global developmental delay	0	ZNF526 CL E G H	116115	29415	OMIM:619877			24

Genes (58) :ADK AIMP2 ARX ASNS ATRX CACNA2D2 COG7 CRIPT DENND5A DST FARS2 FDFT1 FGF13 GLYCTK GRIN1 GRIN2A GUF1 H4C3 KATNB1 KCNQ2 LIAS LIPT2 MFF NDE1 NECAP1 OPA1 PARS2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIGU PLEKHG2 PRPS1 PRUNE1 PSAT1 PTPN23 RARS2 RELN SETBP1 SLC12A2 SLC39A8 SLC9A6 TBCK TELO2 UNC80 WASHC4 WDR4 ZNF526

Diseases (46) :OMIM:614300 OMIM:618006 OMIM:300215 OMIM:615574 ORPHA:847 OMIM:618501 OMIM:608779 OMIM:615789 OMIM:617281 OMIM:614653 OMIM:614946 OMIM:618156 OMIM:301058 ORPHA:941 ORPHA:208447 OMIM:619814 ORPHA:289266 OMIM:617065 OMIM:619758 ORPHA:89844 ORPHA:439218 OMIM:614462 OMIM:617668 ORPHA:485421 OMIM:605013 OMIM:615833 OMIM:616896 OMIM:618437 ORPHA:912 OMIM:618590 OMIM:616763 ORPHA:423479 OMIM:617481 ORPHA:284417 OMIM:618890 OMIM:611523 ORPHA:798 OMIM:619080 ORPHA:468699 OMIM:300243 OMIM:616900 OMIM:616954 OMIM:616801 OMIM:615817 OMIM:618346 OMIM:619877

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

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