ODCs

Click node...

X-linked intellectual deficit with marfanoid habitus

2 OMIM references -
3 associated genes
33 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 7

Pallister-Hall syndrome

1 OMIM reference -
2 associated genes
39 signs/symptoms

X-linked intellectual deficit with marfanoid habitus

Pallister-Hall syndrome

MED12	(UniProt - OMIM)	GLI3	(UniProt - OMIM)
UPF3B	(UniProt - OMIM)	TCF4	(UniProt - OMIM)
ZDHHC9	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MED12	(0.68)	GLI3

Citations in the biomedical literature:

X-linked intellectual deficit with marfanoid habitus		Pallister-Hall syndrome
	Synonym(s): - Lujan syndrome - Lujan-Fryns syndrome - X-linked mental retardation with marfanoid habitus - XLMR with marfanoid habitus		Synonym(s): - Hypothalamic hamartoblastoma syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare renal disease

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

	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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D054975


COMMON SIGNS	- Corpus callosum / septum pellucidum total / partial agenesis - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - Micrognathia / retrognathia / micrognathism / retrognathism - Psychic / behavioural troubles - Seizures / epilepsy / absences / spasms / status epilepticus - Short hand / brachydactyly

X-linked intellectual deficit with marfanoid habitus		Pallister-Hall syndrome
	Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - High forehead - High vaulted / narrow palate - Hypotonia - Macrocephaly / macrocrania / megalocephaly / megacephaly - Marfanoid morphotype - Scoliosis - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Tall stature / gigantism / growth acceleration - X-linked recessive inheritance Frequent - Atrial septal defect / interauricular communication - 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		Very frequent - Autosomal dominant inheritance - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies - Intrauterine growth retardation - Postaxial polydactyly (hand) Frequent - Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Cortico-adrenal hypoplasia / insufficiency - Depressed nasal bridge - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Mesomelic micromelia - Microglossia / aglossia / hypoglossia / tongue hypoplasia - Micropenis / small penis / agenesis - Multicystic kidney / renal dysplasia - Short / small nose - Syndactyly of fingers / interdigital palm - Tracheo-esophageal fistula / esophageal atresia / stenosis - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Abnormal vertebral size / shape - Agenesis / hypoplasia / aplasia of kidneys - Cardiac valvulopathy - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Oral synechiae / abnormal frenulae - Patent ductus arteriosus - Postaxial polydactyly of toes / fifth supernumerary toe - Precocious puberty - Stillbirth / neonatal death - Syndactyly of toes - Thyroid anomalies - Ventricular septal defect / interventricular communication