Disease #00393 (MCPH-1 (microcephaly, type 1, primary, autosomal recessive (MCPH-1)), OMIM:251200)

Official abbreviation MCPH-1
Name microcephaly, type 1, primary, autosomal recessive (MCPH-1)
OMIM ID 251200
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 1 gene MCPH1
Associated tissues -
Disease features -
Remarks -


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00016844 - PubMed: Zhang 2014 2-generation family, 2 affected borthers, heterozygous carrier parents (mother Raynaud disease, scleroderma; father ADHD), brother of patient II2 M no United States European - 0 - trials of phenobarbital, levetiracetam, lorazepam, topiramate, oxcarbazepine, valproic acid, gabapentin, lamotrigine, and clonazepam were ineffective in controlling the seizure activity MCPH-1 Seizure Onset One hour after birth, Profound delays, cortical visual impairment, normal hearing, chronic constipation, tracheomalacia, possible tapetoretinal degeneration as seen in Leber's congential amaurosis, no meaningful visual response in either eye, nutrition by Gtube. Mixed hypotonia and hypertonia. Sloping forehead, bitemporal narrowing, hypotelorism, bilateral epicanthal folds, broad flat nasal bridge, high arched palate. At age 5 months skin exam with slightly raised red rash across his chest and abdomen. Microcephaly -4.8SD at 1.5 months; -10.4SD at 21months QARS QARS 2 2 Marianne Vos (LOVD-team)
00016845 - PubMed: Zhang 2014 brother of 24656866-Fam1PatII1 M no United States European - 0 - was treated with clonazepam and gabapentin regularly for seizures after 2 years of age. MCPH-1 Seizure onset first day of life (frequent, recurring, longlasting), Profound delays, no constipation, can bubble, nystagmus, nutrition by Gtube. High muscle tone with brisk reflexes. Less of sloping forehead than brother, has bitemporal narrowing, epicanthal folds, hyptelorism, low set and posteriorly rotated ears, broad nasal bridge, high palate. Unremarkable skin exam. Microcephaly -5.8SD at 3 months; -7.8SD at 7 months. 2y:period of illness during which he was reported to have episodes characterized by sudden onset of constant kicking and thrashing, dehydration, pneumonia, and rhabdomyolysis with a peak creatine kinase level of >7,000 u/l, lasting 2m; 3y: similar period lasting 8m. QARS QARS 2 1 Marianne Vos (LOVD-team)
00016846 - PubMed: Zhang 2014 2-generation family, 2 affecteds (brother/sister), unaffected heterozygous carrier parents, brother of 24656866-FamIIPat2 M no France European - 0 - - MCPH-1 born at 41w of gestation after uneventful pregnancy. At birth, he showed an OFC at 1 SD, normal body weight (tenth percentile), and normal height (51st percentile). Seizures 1st hour of life consisted clonic movements of the right hemiface and lower limbs, drooling, and cyanosis. Seizures were polymorphic, long lasting, and harmacoresistant. Ictal EEG showed a ‘‘migrating’’ pattern consistent with migrating partial seizures in infancy. He showed global hypotonia and lack of visual interaction. ;5.5y: profound psychomotor delay, microcephaly (3 SDs), active epilepsy with weekly seizures that were resistant to antiepileptic drugs (AEDs). Dysmorphisms: Coarse facies, hypoplastic helix of ear and prominent upper lip. QARS ATP5G2, QARS 3 2 Marianne Vos (LOVD-team)
00016847 - PubMed: Zhang 2014 sister of 24656866-FamIIPat1 F no France European - 0 - - MCPH-1 born full term after an uneventful pregnancy and delivery. OFC of 32 cm (1 SD), normal height (40th percentile), normal body weight (11th percentile). 1m: epilepsy, her first seizures were clonic with apnea and cyanosis. Clusters of focal polymorphic seizures then occurred about 2/month, were poorly controlled despite many AED trials. 5m: seizures occurred in clusters of 20–30 several times/day. Variable clinical manifestations: often mild and accompanied by eye deviation, chewing, apnea, cyanosis. Ictal EEG showed migrating focal seizures. 1y3m: head circumference below the 3d percentile, had severe hypotonia with global psychomotor delay. 3y: weekly seizures, failed to gain further developmental skills, microcephaly (2.5 SDs). QARS ATP5G2, QARS 3 1 Marianne Vos (LOVD-team)
00034030 - PubMed: Waters 2015, Journal: Waters 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - 0 - - MCPH-1 MCPH, mild to moderate learning difficulties; occipital head circumference (OFC) at birth: 29.5 cm (<0.4th centile); adult OFC 45.5 cm, (<0.4th centile); other body systems unaffected, overall growth normal CENPF CENPF 2 1 Johan den Dunnen
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