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Greenberg dysplasia

1 OMIM reference -
1 associated gene
16 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
35 signs/symptoms

Greenberg dysplasia

Rett syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LBR	(0.79)	MECP2

Citations in the biomedical literature:

Greenberg dysplasia		Rett syndrome
	Synonym(s): - Hydrops - ectopic calcification - motheaten - Skeletal dysplasia, Greenberg type		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: adult Type of inheritance: x-linked dominant

	External references: 1 OMIM reference - 1 MeSH reference: C537299		External references: 1 OMIM reference - 1 MeSH reference: D015518

Greenberg dysplasia		Rett syndrome
	Very frequent - Abnormal vertebral size / shape - Abnormal / absent ossification - Autosomal recessive inheritance - Lymphedema - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Red cell disorders - Rhizomelic micromelia - Rib structure anomalies - Short hand / brachydactyly - Short stature / dwarfism / nanism Frequent - Maternal hypertension / eclampsia / preeclampsia / gravidic toxemia - Micrognathia / retrognathia / micrognathism / retrognathism - Mid-facial hypoplasia / short / small midface - Narrow rib cage / thorax - Poorly ossified skull / calvarium - Scalp / skull defect		Very frequent - EEG anomalies - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Movement disorder - Psychic / behavioural troubles - Seizures / epilepsy / absences / spasms / status epilepticus - Skull / cranial anomalies - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Tics / stereotypias - X-linked dominant inheritance Frequent - Anomalies of teeth and dentition - Ataxia / incoordination / trouble of the equilibrium - Autism / autistic disoders - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Dystonia / torticollis / writer's cramp / blepharospasms - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hypertonia / spasticity / rigidity / stiffness - Metacarpal anomalies / Archibald's sign - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scoliosis Occasional - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Arnold-Chiari anomaly - Arthrogryposis - Auto-aggressivity / auto-mutilation - Cardiac rhythm disorder / arrhythmia - Early death / lethality - Failure to thrive / difficulties for feeding in infancy / growth delay - Hemiplegia / diplegia / hemiparesia / limb palsy - Hepatomegaly / liver enlargement (excluding storage disease) - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Muscle weakness / flaccidity - Psychic / psychomotor regression / dementia / intellectual decline - Restricted joint mobility / joint stiffness / ankylosis - Small foot