ODCs

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X-linked intellectual deficit with marfanoid habitus

2 OMIM references -
3 associated genes
33 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Thrombocytopenia - absent radius

1 OMIM reference -
1 associated gene
34 signs/symptoms

X-linked intellectual deficit with marfanoid habitus

Thrombocytopenia - absent radius

MED12	(UniProt - OMIM)	RBM8A	(UniProt - OMIM)
UPF3B	(UniProt - OMIM)
ZDHHC9	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	UPF3B	(0.89)	RBM8A

Citations in the biomedical literature:

X-linked intellectual deficit with marfanoid habitus		Thrombocytopenia - absent radius
	Synonym(s): - Lujan syndrome - Lujan-Fryns syndrome - X-linked mental retardation with marfanoid habitus - XLMR with marfanoid habitus		Synonym(s): - TAR syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare hematologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- High forehead - Low set ears / posteriorly rotated ears - Micrognathia / retrognathia / micrognathism / retrognathism - Scoliosis

X-linked intellectual deficit with marfanoid habitus		Thrombocytopenia - absent radius
	Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - High vaulted / narrow palate - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Macrocephaly / macrocrania / megalocephaly / megacephaly - Marfanoid morphotype - Psychic / behavioural troubles - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Tall stature / gigantism / growth acceleration - X-linked recessive inheritance Frequent - Atrial septal defect / interauricular communication - Corpus callosum / septum pellucidum total / partial agenesis - Flat cheek bones / malar hypoplasia - High nasal bridge - Hyperactivity / attention deficit - Hyperextensible joints / articular hyperlaxity - Long hand / arachnodactyly - Macroorchidism / macrotestes - Narrow face - Pectus excavatum - Short philtrum Occasional - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Brachycephaly / flat occiput - Camptodactyly of some fingers - Delirium / hallucination - Prominent / bat ears - Psychosis / schizophrenia / maniac disorder - Seizures / epilepsy / absences / spasms / status epilepticus - Short hand / brachydactyly		Very frequent - Clotting / hemostasis disorders - Insterstitial / subtelomeric microdeletion / deletion - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Thrombocytopenia / thrombopenia Frequent - Broad forehead - Clinodactyly of fifth finger - Genu varum - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus - Intestinal transit disorder - Patella absent / abnormal (excluding luxation) - Patella dislocation - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray Occasional - Broad / bifid thumb - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Cardiac septal defect - Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Ectopic / horseshoe / fused kidneys - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Phocomelia - Rib number anomalies - Sensorineural deafness / hearing loss - Structural anomalies of the kidney and the urinary tract - Syndactyly of fingers / interdigital palm - Tetralogy of Fallot / trilogy of Fallot - Uterine / uterus / Fallopian tubes anomalies - Vertebral segmentation anomaly / hemivertebrae