MSeqDR Mitochondrial Disease Portal


 
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Cleft Palate (D002972)
Parent Node:
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Facies (D019066)
Parent Node:
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Psychomotor Disorders (D011596)
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CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)

       Child Nodes:



 Sister Nodes: 
..expandAL-RAQAD SYNDROME (OMIM:616459)
..expandALAZAMI-YUAN SYNDROME (OMIM:617126)
..expandAniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation (C000598722)
..expandApraxias (D001072) Child10
..expandASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
..expandBAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
..expandBASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
..expandBowen-Conradi syndrome (C537081)
..expandC SYNDROME (OMIM:211750)
..expandCEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
..expandCHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION (OMIM:616939)
..expandCHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
..expandCLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
..expandCONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
..expandDe Hauwere Leroy Adriaenssens syndrome (C535991)
..expandDevelopmental Delay, Epilepsy, and Neonatal Diabetes (C565253)
..expandDiaminopentanuria (C565630)
..expandDystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..expandEdinburgh Malformation Syndrome (C563051)
..expandFumaric aciduria (C538191)
..expandGenitopatellar Syndrome (C565255)
..expandGrowth Retardation, Small and Puffy Hands and Feet, and Eczema (C565528)
..expandHAREL-YOON SYNDROME (OMIM:617183)
..expandHEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
..expandHypomyelination, Global Cerebral (C567847)  LSDB  L: 00107;
..expandHYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION (OMIM:616816)
..expandHYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
..expandHYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 (OMIM:616801)
..expandHYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
..expandINFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)  LSDB  L: 00108;
..expandINTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA (OMIM:617173)
..expandINTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
..expandINTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
..expandINTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD (OMIM:617450)
..expandINTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
..expandKEPPEN-LUBINSKY SYNDROME (OMIM:614098)
..expandKozlowski Rafinski Klicharska syndrome (C537509)
..expandMacDermot Winter syndrome (C537714)
..expandMACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
..expandMegarbane syndrome (C536145)
..expandMITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)  LSDB  L: 00041;
..expandMyelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..expandOGDEN SYNDROME (OMIM:300855)
..expandOKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPhosphoserine Aminotransferase Deficiency (C567032)
..expandPHOSPHOSERINE PHOSPHATASE DEFICIENCY (OMIM:614023)
..expandPolyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
..expandPsychomotor Agitation (D011595) Child1
..expandTHAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
..expandTrigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
..expandVERHEIJ SYNDROME (OMIM:615583)
..expandZTTK SYNDROME (OMIM:617140)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:2657
Name:CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES
Definition:
Alternative IDs:
ParentIDs:MESH:D002972|MESH:D011596|MESH:D019066
TreeNumbers:C05.500.460.185/616728 |C05.660.207.540.460.185/616728 |C07.320.440.185/616728 |C07.465.525.185/616728 |C07.650.500.460.185/616728 |C07.650.525.185/616728 |C10.597.606.881/616728 |C16.131.621.207.540.460.185/616728 |C16.131.850.500.460.185/616728 |C16.131.850.525
Synonyms:CPRF
Slim Mappings:Congenital abnormality|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms
Reference: MedGen: 616728
MeSH: 616728
OMIM: 616728;
MSeqDR LSDB:  
Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003468Abnormal vertebral morphology
3 HP:0000463Anteverted naresHP:0040284
4 HP:0000592Blue scleraeHP:0040284
5 HP:0000248BrachycephalyHP:0040284
6 HP:0012430Cerebral white matter hypoplasiaHP:0040284
7 HP:0000041ChordeeHP:0040284
8 HP:0004209Clinodactyly of the 5th fingerHP:0040284
9 HP:0002019ConstipationHP:0040284
10 HP:0000028CryptorchidismHP:0040284
11 HP:0002188Delayed CNS myelinationHP:0040284
12 HP:0000750Delayed speech and language development
NAMDC:  Delayed language
HP:0040284
13 HP:0000494Downslanted palpebral fissuresHP:0040284
14 HP:0002714Downturned corners of mouthHP:0040284
15 HP:0000577ExotropiaHP:0040284
16 HP:0011968Feeding difficultiesHP:0040284
17 HP:0002007Frontal bossing
18 HP:0001290Generalized hypotonia
19 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
HP:0040284
20 HP:0001263Global developmental delay
NAMDC:  Mental retardation
HP:0040284
21 HP:0002553Highly arched eyebrow
22 HP:0002079Hypoplasia of the corpus callosumHP:0040284
23 HP:0001800Hypoplastic toenailsHP:0040284
24 HP:0001382Joint hypermobilityHP:0040284
25 HP:0006895Lower limb hypertonia
26 HP:0000256MacrocephalyHP:0040284
27 HP:0001270Motor delay
28 HP:0000657Oculomotor apraxiaHP:0040284
29 HP:0011220Prominent foreheadHP:0040284
30 HP:0000508Ptosis
NAMDC:  Ptosis
HP:0040284
31 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
HP:0040284
32 HP:0009778Short thumb
33 HP:0002558Supernumerary nippleHP:0040283
34 HP:0000664SynophrysHP:0040283
35 HP:0003396SyringomyeliaHP:0040284
36 HP:0001182Tapered finger
37 HP:0002144Tethered cordHP:0040284
38 HP:0000219Thin upper lip vermilionHP:0040284
39 HP:0000431Wide nasal bridgeHP:0040284
40 HP:0000687Widely spaced teethHP:0040284
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001009999.3(KDM1A):c.131T>C (p.Leu44Pro)23028KDM1AUncertain significancers1641551328RCV001329482; NMONDO:MONDO:0014751,MedGen:C4225229,OMIM:616728, Orphanet:47799312334622023346220TC23346220-
NM_001009999.3(KDM1A):c.136G>A (p.Gly46Ser)23028KDM1AConflicting interpretations of pathogenicityrs144822945RCV001198307|RCV001819887; NMONDO:MONDO:0014751,MedGen:C4225229,OMIM:616728, Orphanet:477993|MedGen:CN16937412334622523346225GA1:g.23346225G>A-
NM_001009999.3(KDM1A):c.278C>A (p.Ser93Tyr)23028KDM1AUncertain significancers1011602988RCV001329483; NMONDO:MONDO:0014751,MedGen:C4225229,OMIM:616728, Orphanet:47799312334636723346367CA23346367-
NM_001009999.3(KDM1A):c.1207G>A (p.Glu403Lys)23028KDM1APathogenicrs864309715RCV000203263; NMONDO:MONDO:0014751,MedGen:C4225229,OMIM:616728, Orphanet:47799312339505923395059GA1:g.23395059G>AClinGen:CA278781,OMIM:609132.0002C4225229 616728 Cleft palate, psychomotor retardation, and distinctive facial features;
NM_001009999.3(KDM1A):c.1720A>G (p.Lys574Glu)23028KDM1AUncertain significancers1553131717RCV000656528; NMONDO:MONDO:0014751,MedGen:C4225229,OMIM:616728, Orphanet:47799312339988223399882AG1:g.23399882A>G-C4225229 616728 Cleft palate, psychomotor retardation, and distinctive facial features;
NM_001009999.3(KDM1A):c.1739A>G (p.Asp580Gly)23028KDM1APathogenicrs864309716RCV000203268; NMONDO:MONDO:0014751,MedGen:C4225229,OMIM:616728, Orphanet:47799312340372523403725AG1:g.23403725A>GClinGen:CA278784,OMIM:609132.0003C4225229 616728 Cleft palate, psychomotor retardation, and distinctive facial features;
NM_001009999.3(KDM1A):c.1901C>T (p.Thr634Met)23028KDM1AUncertain significance-1RCV001779385; NMONDO:MONDO:0014751,MedGen:C4225229,OMIM:616728, Orphanet:47799312340551623405516CT23405516-
NM_001009999.3(KDM1A):c.1975C>T (p.Pro659Ser)23028KDM1AUncertain significancers767582484RCV001280898; NMONDO:MONDO:0014751,MedGen:C4225229,OMIM:616728, Orphanet:47799312340559023405590CT1:g.23405590C>T-
NM_001009999.3(KDM1A):c.2353T>C (p.Tyr785His)23028KDM1APathogenicrs864309714RCV000203273; NMONDO:MONDO:0014751,MedGen:C4225229,OMIM:616728, Orphanet:47799312340876723408767TC1:g.23408767T>CClinGen:CA278787,OMIM:609132.0001C4225229 616728 Cleft palate, psychomotor retardation, and distinctive facial features;
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