Disease #05775 (IDDSADF (intellectual developmental disorder with speech delay, autism, and dysmorphic facies (IDDSADF)), OMIM:618672)

Official abbreviation IDDSADF
Name intellectual developmental disorder with speech delay, autism, and dysmorphic facies (IDDSADF)
OMIM ID 618672
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene CNOT3
Associated tissues -
Disease features -
Remarks -
Date created 2020-06-16 22:35:14 +02:00 (CEST)
Date last edited N/A


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00372578 - - - F - - - - - - - IDDFBA, IDDSADF, NDD , Neurodevelopmental delay (HP:0012758), Unilateral ptosis (HP:0007687), Strabismus (HP:0000486), Intellectual disability (HP:0001249), Behavioral abnormality (HP:0000708), Broad forehead (HP:0000337), Sparse lateral eyebrow (HP:0005338), Epicanthus (HP:0000286), Low-set, posteriorly rotated ears (HP:0000368), Smooth philtrum (HP:0000319), Long philtrum (HP:0000343), Thin vermilion border (HP:0000233), High palate (HP:0000218), Dental malocclusion (HP:0000689), Microretrognathia (HP:0000308), Short metacarpal (HP:0010049), Clinodactyly of the 5th finger (HP:0004209), Lumbar hyperlordosis (HP:0002938), Brachycephaly (HP:0000248) - ZFHX4 1 1 Monia Ginevrino
00382960 186267 - - ? - - - - - - - IDDSADF Motor delay, Hypoplasia of the corpus callosum, Global developmental delay, Delayed ability to stand, Delayed ability to stand, Global brain atrophy, Aplasia/Hypoplasia of the cerebral white matter, Widened subarachnoid space, Widened cerebral subarachnoid space, Prolonged neonatal jaundice, Developmental stagnation, Relative macrocephaly, Generalized hypotonia, Neonatal hypotonia, Muscular hypotonia, High palate, Small for gestational age, Impaired social interactions, Delayed social development CNOT3 CNOT3 1 1 Andreas Laner
00465620 330504 - - F no Germany - - - - - IDDSADF Neurodevelopmental delay, Intellectual disability, Short attention span, Obesity, Macrocephaly, Small face, Depressed nasal bridge, Incoordination CNOT3 CNOT3 1 1 Andreas Laner
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