ORPHA:708166

Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome

Synonyms: TM2D3-related neurodevelopmental disorder

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome	TM2D3-related neurodevelopmental disorder
fr	Syndrome de trouble neurodéveloppemental sévère-dysmorphie faciale-anomalies cérébrales-rénales-cardiaques	Trouble du neurodéveloppement associé à TM2D3
de	Neurologische Entwicklungsstörung, TM2D3-assoziierte	Neuro-kardio-renales Fehlbildungssyndrom · Schwere syndromale neurologische Entwicklungsstörung mit Gesichtsdysmorphie und zerebralen, renalen und kardialen Anomalien
es	Síndrome de trastorno grave del neurodesarrollo-dismorfia facial-anomalías cerebro-cardio-renales	Trastorno del neurodesarrollo asociado a TM2D3
it	Sindrome grave disturbo del neurosviluppo-dismorfismi facciali-anomalie cerebrali-renali-cardiache	Malattia del neurosviluppo correlata a TM2D3
nl	Ernstige neurologische ontwikkelingsstoornis - faciale dysmorfie - cerebrale-renale-cardiale anomalieën-syndroom	TM2D3-gerelateerde neurologische ontwikkelingsstoornis
pt	Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome
pl	Zespół ciężkich zaburzeń neurorozwojowych, dysmorfii twarzy oraz wad mózgu, nerek i serca	= en
cs	Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome	= en

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	Q87.8	NTBT	attributed	validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (5):

ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases
ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
ORPHA:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
TM2D3	Disease-causing germline mutation(s) in	Assessed	HGNC:24128	ENSG00000184277	610014	15q26.3	TM2 domain containing 3	40449487[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		4 cases	Worldwide	Case(s)	Validated	ORPHANET
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

Orphanet has no HPO annotation for this code in this release.