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X-linked intellectual deficit with marfanoid habitus
2 OMIM references -
3 associated genes
82 connected diseases
33 signs/symptoms
Disease Type of connection
X-linked non-syndromic intellectual deficit
Blepharophimosis-intellectual deficit syndrome, MKB type
FG syndrome type 1
Intellectual deficit, X-linked, Raymond type
Amyotrophic lateral sclerosis
Richieri Costa-Pereira syndrome
Thrombocytopenia - absent radius
Hypocalcemic vitamin D-resistant rickets
46,XX ovotesticular disorder of sex development
46,XX testicular disorder of sex development
Campomelic dysplasia
Estrogen resistance syndrome
Peripheral resistance to thyroid hormones
Burkitt lymphoma
Precursor T-cell acute lymphoblastic leukemia
Charcot-Marie-Tooth disease type 2B2
Isolated CoQ-cytochrome C reductase deficiency
Familial thoracic aortic aneurysm and aortic dissection
Hereditary nonpolyposis colon cancer
Loeys-Dietz syndrome type 1
Marfan syndrome type 2
Acrocallosal syndrome
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polysyndactyly, bilateral
Polysyndactyly, unilateral
Postaxial polydactyly type A, bilateral
Postaxial polydactyly type A, unilateral
Postaxial polydactyly type B, bilateral
Postaxial polydactyly type B, unilateral
Attenuated Chédiak-Higashi syndrome
Chédiak-Higashi syndrome
Autosomal dominant secondary polycythemia
Autosomal recessive nonsyndromic intellectual deficit
Bannayan-Riley-Ruvalcaba syndrome
Congenital bilateral absence of vas deferens
Cowden syndrome
Cystic fibrosis
Hereditary breast and ovarian cancer syndrome
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Idiopathic pulmonary fibrosis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Juvenile polyposis of infancy
Lhermitte-Duclos disease
Macrocephaly-autism syndrome
Male infertility with normal virilization due to meiosis defect
Multiple paragangliomas associated with polycythemia
Proteus syndrome
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Squamous cell carcinoma of head and neck
Young adult-onset Parkinsonism
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Autosomal dominant methemoglobinemia
Beta-thalassemia intermedia
Beta-thalassemia major
Dominant beta-thalassemia
Heinz body anemia
Hemoglobin C - beta-thalassemia
Hemoglobin C disease
Hemoglobin D disease
Hemoglobin E - beta-thalassemia
Hemoglobin E disease
Hemoglobin Lepore - beta-thalassemia
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hereditary persistence of fetal hemoglobin - sickle cell disease
Sickle cell - beta-thalassemia disease
Sickle cell - hemoglobin C disease
Sickle cell - hemoglobin D disease
Sickle cell - hemoglobin E disease
Sickle cell anemia
- Lujan syndrome
- Lujan-Fryns syndrome
- X-linked mental retardation with marfanoid habitus
- XLMR with marfanoid habitus

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

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
External references:
2 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
MED12 Q93074300188
UPF3B Q9BZI7300298
ZDHHC9 Q9Y397300646
Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- High forehead
- High vaulted / narrow palate
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Marfanoid morphotype
- Micrognathia / retrognathia / micrognathism / retrognathism
- Psychic / behavioural troubles
- Scoliosis
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tall stature / gigantism / growth acceleration
- X-linked recessive inheritance

- 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

- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Brachycephaly / flat occiput
- Camptodactyly of some fingers
- Delirium / hallucination
- Low set ears / posteriorly rotated ears
- Prominent / bat ears
- Psychosis / schizophrenia / maniac disorder
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short hand / brachydactyly