Short stature, microcephaly, and endocrine dysfunction

Preferred Label : Short stature, microcephaly, and endocrine dysfunction;

Symbol : SSMED;

CISMeF acronym : SSMED;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the X-ray repair complementing defective repair in Chinese hamster cells-4 gene (XRCC4, 194363.0001);

Neoplasia : Thalamic glioma, low grade (rare); Gastrointestinal stromal tumor of jejunum (rare);

Prefixed ID : #616541;

Details

Origin ID

616541;

UMLS CUI

C4225288;

Genes related to phenotype
- X-ray repair cross complementing 4 [OMIM gene]
HPO term(s)
- Abnormal circulating lipid concentration [HPO term]
- Acanthosis nigricans [HPO term]
- Anemia [HPO term]
- Apraxia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad nasal tip [HPO term]
- Broad-based gait [HPO term]
- Cataract [HPO term]
- Cerebellar vermis atrophy [HPO term]
- Clinodactyly [HPO term]
- Cognitive impairment [HPO term]
- Convex nasal ridge [HPO term]
- Cryptorchidism [HPO term]
- Deeply set eye [HPO term]
- Delayed speech and language development [HPO term]
- Diabetes mellitus [HPO term]
- Dilated cardiomyopathy [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Dysmetria [HPO term]
- Ectopic kidney [HPO term]
- Gait disturbance [HPO term]
- Global developmental delay [HPO term]
- High forehead [HPO term]
- High pitched voice [HPO term]
- Hypotelorism [HPO term]
- Hypothyroidism [HPO term]
- Immunodeficiency [HPO term]
- Impaired smooth pursuit [HPO term]
- Inguinal hernia [HPO term]
- Insulin resistance [HPO term]
- Intrauterine growth retardation [HPO term]
- Limb undergrowth [HPO term]
- Long face [HPO term]
- Long nose [HPO term]
- Lymphopenia [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Nystagmus [HPO term]
- Pes cavus [HPO term]
- Prominent nasal bridge [HPO term]
- Renal hypoplasia [HPO term]
- Sensorineural hearing impairment [HPO term]
- Sensory axonal neuropathy [HPO term]
- Sensory neuropathy [HPO term]
- Short chin [HPO term]
- Short stature [HPO term]
- Simplified gyral pattern [HPO term]
- Sloping forehead [HPO term]
- Sparse hair [HPO term]
- Tooth malposition [HPO term]
- Triangular face [HPO term]
- Truncal obesity [HPO term]
- Unilateral renal agenesis [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Microcephalic primordial dwarfism-insulin resistance syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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