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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Mental Retardation, X-Linked (D038901)
Parent Node: Microcephaly (D008831)
..Starting node ..Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia (C567466)
Child Nodes:
Sister Nodes:
..Absent Eyebrows and Eyelashes with Mental Retardation (C563111)
..Achalasia microcephaly (C536010)
..Agammaglobulinemia, microcephaly, and severe dermatitis (C538055)
..Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..Amish lethal microcephaly (C538247)
..Anonychia, Total, with Microcephaly (C564606)
..Aphalangia syndactyly microcephaly (C537787)
..Ataxia-Microcephaly-Cataract Syndrome (C563086)
..Autosomal Recessive Primary Microcephaly (C579935)
..Baetz-Greenwalt syndrome (C537795)
..BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
..Baraitser Brett Piesowicz syndrome (C537905)
..Battaglia Neri syndrome (C537662)
..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..Bixler Christian Gorlin syndrome (C537632)
..Boudhina Yedes Khiari syndrome (C537939)
..Brachydactyly, Type A2, With Microcephaly (C565894)
..Branchial arch syndrome X-linked (C537102)
..Bullous Dystrophy, Hereditary Macular Type (C563065)
..CAMFAK syndrome (C537965)
..Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies (C563414)
..Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome (C566861)
..Chromosomal Instability with Tissue-Specific Radiosensitivity (C565848)
..Chromosome 15q26-Qter Deletion Syndrome (C567232)
..CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
..CHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
..CK SYNDROME (OMIM:300831)
..Cohen syndrome (C536438)
..Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities (C565667)
..Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
..Dubowitz syndrome (C535718)
..Ellis Yale Winter syndrome (C536205)
..Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
..Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly (C565032)
..Filippi syndrome (C538152)
..FORSYTHE-WAKELING SYNDROME (OMIM:613606)
..Galloway Mowat syndrome (C537548)
..GOMBO syndrome (C537284)
..Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate (C537405)
..Growth Deficiency and Mental Retardation with Facial Dysmorphism (C565358)
..Hadziselimovic Syndrome (C567850)
..Halal syndrome (C535622)
..Hersh Podruch Weisskopk syndrome (C538114)
..Hoyeraal Hreidarsson syndrome (C536068)
..Hypogonadism with Low-Grade Mental Deficiency and Microcephaly (C565482)
..Hypospadias-Mental Retardation Syndrome (C563067)
..Jejunal Atresia with Microcephaly and Ocular Anomalies (C565460)
..Jorgenson Lenz syndrome (C536292)
..Kaufman oculocerebrofacial syndrome (C537013)
..Lambotte syndrome (C537549)
..Lissencephaly 3 (C566908)
..Lowry Wood syndrome (C537038)
..Lymphedema, microcephaly and chorioretinopathy syndrome (C537711)
..MacDermot Winter syndrome (C537714)
..Marfanoid Habitus with Microcephaly and Glomerulonephritis (C565411)
..MEHMO syndrome (C537451)
..Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia (C567466)
..Mental Retardation, Microcephaly, Epilepsy, And Coarse Face (C563342)
..Mental Retardation, X-Linked, Syndromic 9 (C567474)
..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..Microcephalic osteodysplastic primordial dwarfism, type 1 (C537577)
..Microcephalic osteodysplastic primordial dwarfism, type 3 (C537320)
..Microcephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
..Microcephalic primordial dwarfism Toriello type (C537321)
..Microcephaly albinism digital anomalies syndrome (C537322)
..Microcephaly autosomal dominant (C537323)
..Microcephaly cervical spine fusion anomalies (C537325)
..Microcephaly deafness syndrome (C537326)
..Microcephaly microphthalmos blindness (C537541)
..Microcephaly nonsyndromal (C537542)
..Microcephaly pontocerebellar hypoplasia dyskinesia (C537543)
..Microcephaly seizures genital hypoplasia (C537540)
..Microcephaly seizures mental retardation heart disorders (C537544)
..Microcephaly sparse hair mental retardation seizures (C537545)
..Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia (C565381)
..Microcephaly with Chorioretinopathy, Autosomal Dominant (C563583)
..Microcephaly with Chorioretinopathy, Autosomal Recessive (C565379)
..Microcephaly with Mental Retardation and Digital Anomalies (C567101)
..Microcephaly with Simplified Gyral Pattern (C566332)
..Microcephaly with spastic quadriplegia (C537546)
..Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs (C563341)
..Microcephaly, corpus callosum dysgenesis and cleft lip-palate (C537547)
..Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance (C567849)
..Microcephaly, Macrotia, And Mental Retardation (C566525)
..Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism (C537686)
..MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..Microcephaly, Primary Autosomal Recessive, 1 (C565384)
..Microcephaly, Primary Autosomal Recessive, 2 (C565794)
..Microcephaly, Primary Autosomal Recessive, 3 (C565746)
..Microcephaly, Primary Autosomal Recessive, 4 (C565792)
..Microcephaly, Primary Autosomal Recessive, 5 (C563871)
..Microcephaly, Primary Autosomal Recessive, 5, with Simplified Gyral Pattern (C567221)
..Microcephaly, Primary Autosomal Recessive, 6 (C564247)
..Microcephaly, Primary Autosomal Recessive, 7 (C567198)
..Microcephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
..MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects (C566377)
..Microcephaly-Micromelia Syndrome (C565382)
..Microhydranencephaly (C537555)
..Microphthalmia and mental deficiency (C537462)
..Milner Khallouf Gibson syndrome (C537473)
..Mirhosseini-Holmes-Walton syndrome (C538367)
..Mowat-Wilson syndrome (C536990)
..Muscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation (C565506)
..Neu Laxova syndrome (C536405)
..Nijmegen Breakage Syndrome-Like Disorder (C567767)
..Oculodigitoesophagoduodenal syndrome (C537734)
..Oculopalatocerebral Syndrome (C564935)
..Osteogenesis imperfecta congenita, microcephaly, and cataracts (C537558)
..Paine syndrome (C538101)
..Partington Anderson syndrome (C536299)
..Phosphoglycerate Dehydrogenase Deficiency (C566618)
..Phosphoserine Aminotransferase Deficiency (C567032)
..PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
..Porencephaly (D065708) 1
..Raine syndrome (C535282)
..RAJAB SYNDROME (OMIM:613658)
..Sammartino De Crecchio Syndrome (C537229)
..Say Barber Miller syndrome (C536618)
..Say syndrome (C536621)
..Schimke X-linked mental retardation syndrome (C536630)
..Seckel syndrome 1 (C537533)
..Seckel syndrome 2 (C537534)
..Seckel Syndrome 3 (C563881)
..SECKEL SYNDROME 4 (OMIM:613676)
..Secretory Diarrhea, Myopathy, and Deafness (C564382)
..Seemanova Lesny syndrome (C537536)
..Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation (C566970)
..Silengo Lerone Pelizza syndrome (C537336)
..Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..Spinal Muscular Atrophy with Microcephaly and Mental Subnormality (C564806)
..Spondyloepimetaphyseal dysplasia, Genevieve type (C535785)
..Teebi Kaurah syndrome (C536948)
..Trichodental syndrome (C536551)
..Tsukahara Syndrome (C566376)
..Warburg Sjo Fledelius syndrome (C536681)
..Warburton Anyane Yeboa syndrome (C536682)
..Winship Viljoen Leary syndrome (C536711)
..Zerres Rietschel Majewski syndrome (C536724)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6970

Name:

Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia

Definition:

Alternative IDs:

OMIM:300749

ParentIDs:

MESH:D008831|MESH:D038901

TreeNumbers:

C05.660.207.620/C567466 |C10.500.507.400.500/C567466 |C10.597.606.643.455/C567466 |C16.131.621.207.620/C567466 |C16.131.666.507.400.500/C567466 |C16.320.322.500/C567466 |C16.320.400.525/C567466

Synonyms:

MENTAL RETARDATION, X-LINKED, SYNDROMIC, NAJM TYPE |MICPCH |MICPCH Syndrome |MRXSNA

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C567466
MeSH: C567466
OMIM: 300749;

Genes: CASK;

Phenotypes

1	HP:0001423	X-linked dominant inheritance
2	HP:0001090	Abnormally large globe
3	HP:0001344	Absent speech
4	HP:0000455	Broad nasal tip
5	HP:0001321	Cerebellar hypoplasia
6	HP:0004325	Decreased body weight
7	HP:0002198	Dilated fourth ventricle
8	HP:0000286	Epicanthus
9	HP:0001290	Generalized hypotonia
10	HP:0001263	Global developmental delay
11	HP:0000218	High palate
12	HP:0001347	Hyperreflexia
13	HP:0000316	Hypertelorism
14	HP:0000966	Hypohidrosis
15	HP:0002342	Intellectual disability, moderate
16	HP:0000343	Long philtrum
17	HP:0007227	Macrogyria	HP:0040283
18	HP:0000400	Macrotia
19	HP:0000347	Micrognathia
20	HP:0001324	Muscle weakness
21	HP:0008936	Muscular hypotonia of the trunk
22	HP:0000639	Nystagmus	HP:0040283
23	HP:0000543	Optic disc pallor	HP:0040283
24	HP:0000609	Optic nerve hypoplasia	HP:0040283
25	HP:0000300	Oval face
26	HP:0008897	Postnatal growth retardation
27	HP:0000253	Progressive microcephaly
28	HP:0000426	Prominent nasal bridge
29	HP:0002650	Scoliosis	HP:0040283
30	HP:0001250	Seizure	HP:0040283
31	HP:0000407	Sensorineural hearing impairment	HP:0040283
32	HP:0003196	Short nose
33	HP:0004322	Short stature
34	HP:0001257	Spasticity
35	HP:0000486	Strabismus	HP:0040283
36	HP:0000431	Wide nasal bridge

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_003688.3(CASK):c.2531_2532delAG (p.Glu844Valfs)	8573	CASK	Pathogenic	797045433	RCV000194553;	N	MedGen:C2677903,OMIM:300749,ORPHA:163937	X	41383261	41383262	NM_003688.3:c.2531_2532delAG	NP_003679.2:p.Glu844Valfs	NC_000023.10:g.41383261_41383262delCT	-	C2677903 300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
NM_003688.3(CASK):c.2470C>T (p.Gln824Ter)	8573	CASK	Pathogenic	587783364	RCV000145402;	N	MedGen:C2677903,OMIM:300749,ORPHA:163937	X	41390295	41390295	NM_003688.3:c.2470C>T	NP_003679.2:p.Gln824Ter	NC_000023.10:g.41390295G>A	-	C2677903 300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
NM_003688.3(CASK):c.2427G>A (p.Ala809=)	8573	CASK	Uncertain significance	141158465	RCV000145401;	N	MedGen:C2677903,OMIM:300749,ORPHA:163937	X	41390338	41390338	NM_003688.3:c.2427G>A	NP_003679.2:p.Ala809=	NC_000023.10:g.41390338C>T	-	C2677903 300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
NM_003688.3(CASK):c.2377C>T (p.Gln793Ter)	8573	CASK	Pathogenic	749742837	RCV000193508;	N	MedGen:C2677903,OMIM:300749,ORPHA:163937	X	41390388	41390388	NM_003688.3:c.2377C>T	NP_003679.2:p.Gln793Ter	NC_000023.10:g.41390388G>A	-	C2677903 300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
NM_003688.3(CASK):c.2303-2A>G	8573	CASK	Pathogenic	863224854	RCV000198342;	N	MedGen:C2677903,OMIM:300749,ORPHA:163937	X	41390464	41390464	NM_003688.3:c.2303-2A>G		NC_000023.10:g.41390464T>C	-	C2677903 300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
NM_003688.3(CASK):c.2168A>G (p.Tyr723Cys)	8573	CASK	Likely pathogenic;Pathogenic	398122844	RCV000193589; RCV000022829;	N	MedGen:C1845546,OMIM:300422; MedGen:C2677903,OMIM:300749,ORPHA:163937	X	41394199	41394199	NM_003688.3:c.2168A>G	NP_003679.2:p.Tyr723Cys	NC_000023.10:g.41394199T>C	OMIM Allelic Variant:300172.0008	C1845546 300422 FG syndrome 4; C2677903 300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
NM_003688.3(CASK):c.2074C>T (p.Gln692Ter)	8573	CASK	Pathogenic	587783361	RCV000145398;	N	MedGen:C2677903,OMIM:300749,ORPHA:163937	X	41402025	41402025	NM_003688.3:c.2074C>T	NP_003679.2:p.Gln692Ter	NC_000023.10:g.41402025G>A	-	C2677903 300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
NM_003688.3(CASK):c.2041C>T (p.Arg681Ter)	8573	CASK	Pathogenic	587783360	RCV000145397;	N	MedGen:C2677903,OMIM:300749,ORPHA:163937	X	41402058	41402058	NM_003688.3:c.2041C>T	NP_003679.2:p.Arg681Ter	NC_000023.10:g.41402058G>A	-	C2677903 300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
NM_003688.3(CASK):c.2039G>C (p.Trp680Ser)	8573	CASK	Uncertain significance	587783358	RCV000145395;	N	MedGen:C2677903,OMIM:300749,ORPHA:163937	X	41412972	41412972	NM_003688.3:c.2039G>C	NP_003679.2:p.Trp680Ser	NC_000023.10:g.41412972C>G	-	C2677903 300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
NM_003688.3(CASK):c.1981delC (p.Leu661Trpfs)	8573	CASK	Pathogenic	797045431	RCV000194542;	N	MedGen:C2677903,OMIM:300749,ORPHA:163937	X	41413030	41413030	NM_003688.3:c.1981delC	NP_003679.2:p.Leu661Trpfs	NC_000023.10:g.41413030delG	-	C2677903 300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
NM_003688.3(CASK):c.1976G>A (p.Gly659Asp)	8573	CASK	Pathogenic	727505397	RCV000157068;	N	MedGen:C2677903,OMIM:300749,ORPHA:163937	X	41413035	41413035	NM_003688.3:c.1976G>A	NP_003679.2:p.Gly659Asp	NC_000023.10:g.41413035C>T	-	C2677903 300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
NM_003688.3(CASK):c.1915C>T (p.Arg639Ter)	8573	CASK	Pathogenic	137852815	RCV000012286;	N	MedGen:C2677903,OMIM:300749,ORPHA:163937	X	41413096	41413096	NM_003688.3:c.1915C>T	NP_003679.2:p.Arg639Ter	NC_000023.10:g.41413096G>A	OMIM Allelic Variant:300172.0001	C2677903 300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
NM_003688.3(CASK):c.1644_1645delAG (p.Val549Glyfs)	8573	CASK	Pathogenic	587783357	RCV000145394;	N	MedGen:C2677903,OMIM:300749,ORPHA:163937	X	41420835	41420836	NM_003688.3:c.1644_1645delAG	NP_003679.2:p.Val549Glyfs	NC_000023.10:g.41420835_41420836delCT	-	C2677903 300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
NM_003688.3(CASK):c.1639C>T (p.Gln547Ter)	8573	CASK	Pathogenic	387906705	RCV000022833;	N	MedGen:C2677903,OMIM:300749,ORPHA:163937	X	41420841	41420841	NM_003688.3:c.1639C>T	NP_003679.2:p.Gln547Ter	NC_000023.10:g.41420841G>A	OMIM Allelic Variant:300172.0012	C2677903 300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
NM_003688.3(CASK):c.1269C>T (p.Asn423=)	8573	CASK	Uncertain significance	17315800	RCV000145393;	N	MedGen:C2677903,OMIM:300749,ORPHA:163937	X	41446205	41446205	NM_003688.3:c.1269C>T	NP_003679.2:p.Asn423=	NC_000023.10:g.41446205G>A	-	C2677903 300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
NM_003688.3(CASK):c.915G>A (p.Lys305=)	8573	CASK	Pathogenic	387906499	RCV000012287;	N	MedGen:C2677903,OMIM:300749,ORPHA:163937	X	41495831	41495831	NM_003688.3:c.915G>A	NP_003679.2:p.Lys305=	NC_000023.10:g.41495831C>T	OMIM Allelic Variant:300172.0002	C2677903 300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
NM_003688.3(CASK):c.880C>T (p.Gln294Ter)	8573	CASK	Pathogenic	587783371	RCV000145416;	N	MedGen:C2677903,OMIM:300749,ORPHA:163937	X	41495866	41495866	NM_003688.3:c.880C>T	NP_003679.2:p.Gln294Ter	NC_000023.10:g.41495866G>A	-	C2677903 300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
NM_003688.3(CASK):c.764G>A (p.Arg255His)	8573	CASK	Likely pathogenic	587783369	RCV000145413;	N	MedGen:C2677903,OMIM:300749,ORPHA:163937	X	41519759	41519759	NM_003688.3:c.764G>A	NP_003679.2:p.Arg255His	NC_000023.10:g.41519759C>T	-	C2677903 300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
NM_003688.3(CASK):c.708+1G>A	8573	CASK	Pathogenic	587783368	RCV000145411;	N	MedGen:C2677903,OMIM:300749,ORPHA:163937	X	41524529	41524529	NM_003688.3:c.708+1G>A		NC_000023.10:g.41524529C>T	-	C2677903 300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
NM_003688.3(CASK):c.617G>A (p.Gly206Asp)	8573	CASK	Uncertain significance	587783367	RCV000145409;	N	MedGen:C2677903,OMIM:300749,ORPHA:163937	X	41524621	41524621	NM_003688.3:c.617G>A	NP_003679.2:p.Gly206Asp	NC_000023.10:g.41524621C>T	-	C2677903 300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
NM_003688.3(CASK):c.430-2A>T	8573	CASK	Pathogenic	587783366	RCV000145406;	N	MedGen:C2677903,OMIM:300749,ORPHA:163937	X	41530785	41530785	NM_003688.3:c.430-2A>T		NC_000023.10:g.41530785T>A	-	C2677903 300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
NM_003688.3(CASK):c.316C>T (p.Arg106Ter)	8573	CASK	Pathogenic	387906704	RCV000022831;	N	MedGen:C2677903,OMIM:300749,ORPHA:163937	X	41604817	41604817	NM_003688.3:c.316C>T	NP_003679.2:p.Arg106Ter	NC_000023.10:g.41604817G>A	OMIM Allelic Variant:300172.0010	C2677903 300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
NM_003688.3(CASK):c.79C>T (p.Arg27Ter)	8573	CASK	Pathogenic	794727270	RCV000175755; RCV000175756;	N	MedGen:C1845546,OMIM:300422; MedGen:C2677903,OMIM:300749,ORPHA:163937	X	41712461	41712461	NM_003688.3:c.79C>T	NP_003679.2:p.Arg27Ter	NC_000023.10:g.41712461G>A	-	C1845546 300422 FG syndrome 4; C2677903 300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
NM_003688.3(CASK):c.55G>A (p.Gly19Arg)	8573	CASK	Likely pathogenic;Uncertain significance	727503840	RCV000173304; RCV000173305; RCV000152930;	N	MedGen:C1845546,OMIM:300422; MedGen:C2677903,OMIM:300749,ORPHA:163937; MedGen:CN221809	X	41782187	41782187	NM_003688.3:c.55G>A	NP_003679.2:p.Gly19Arg	NC_000023.10:g.41782187C>T	-	C1845546 300422 FG syndrome 4; C2677903 300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia; CN221809 not provided
NM_003688.3(CASK):c.20_27delTGTTCGAG (p.Leu7Argfs)	8573	CASK	Pathogenic	587783362	RCV000145399;	N	MedGen:C2677903,OMIM:300749,ORPHA:163937	X	41782215	41782222	NM_003688.3:c.20_27delTGTTCGAG	NP_003679.2:p.Leu7Argfs	NC_000023.10:g.41782215_41782222delCTCGAACA	-	C2677903 300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia