Microcephaly ; Micrognathia ; Microtia ; Narrow mouth ; Nonimmune hydrops fetalis ; Open mouth ; Opisthotonus ; Petechiae ; Polyhydramnios ; Premature birth ; Progressive neurologic deterioration ; Respiratory distress ; Retrognathia ; Seizures ; Short nose ; Splenomegaly [mousephenotype.org]

(see Splenomegaly, [[Splenomegaly]]) Epidemiology : most common presenting manifestation Splenic Infarction Epidemiology : occurs rarely Clinical Abdominal Pain (see Abdominal Pain, [[Abdominal Pain]]) Neurologic Manifestations Parkinson’s Disease (see [mdnxs.com]

0001989 Hepatomegaly Enlarged liver 0002240 High palate Elevated palate Increased palatal height [ more ] 0000218 Hypertonia 0001276 Low-set, posteriorly rotated ears 0000368 Muscular hypotonia Low or weak muscle tone 0001252 Seizures Seizure 0001250 Splenomegaly [rarediseases.info.nih.gov]

The clinical features include weakness, dyspnea, refractory anemia, splenomegaly, periostitis and pains in the bones. Myelofibrosis is observed equally often in the two sexes and has no predilection for [jamanetwork.com]

[…] type IIIa Gaucher disease, type IIIb Gaucher disease, type IIIc Gaucher disease, Norrbottnian type Gaucher disease, perinatal lethal Gaucher disease, collodion type Gaucher disease, juvenile and adult, cerebral GD cerebroside lipidosis syndrome Gaucher splenomegaly [flybase.org]

[…] birth Premature delivery of affected infants Preterm delivery [ more ] 0001622 Progressive neurologic deterioration Worsening neurological symptoms 0002344 Respiratory distress Breathing difficulties Difficulty breathing [ more ] 0002098 Retrognathia Receding [rarediseases.info.nih.gov]

[…] cells were detected in bronchoalveolar lavage fluid (BALF), and suggest that this may be a useful tool for early diagnosis.Case reportAt 36 weeks of gestation, a male infant weighing 2731 g was delivered by cesarean section because of hydrops fetalis, cardiomegaly [deepdyve.com]

Synonyms GAUCHER DISEASE, COLLODION TYPE Classification genetic, metabolism, skin, sucking/swallowing Phenotypes Akinesia ; Anemia ; Anteverted nares ; Apathy ; Apnea ; Arthrogryposis multiplex congenita ; Ascites ; Autosomal recessive inheritance ; Cardiomegaly [mousephenotype.org]

[…] available through HPO Akinesia 0002304 Anemia Low number of red blood cells or hemoglobin 0001903 Apathy Lack of feeling, emotion, interest 0000741 Apnea 0002104 Ascites Accumulation of fluid in the abdomen 0001541 Autosomal recessive inheritance 0000007 Cardiomegaly [rarediseases.info.nih.gov]

Depressed nasal bridge ; Desquamation of skin soon after birth ; Dysphagia ; Everted lower lip vermilion ; Everted upper lip vermilion ; Hepatic failure ; Hepatomegaly ; Hyperkeratosis ; Hypertelorism ; Hypokinesia ; Intrauterine growth retardation ; Low-set [mousephenotype.org]

ears Low set ears Lowset ears [ more ] 0000369 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Micrognathia Little lower jaw Small jaw [rarediseases.info.nih.gov]

posteriorly rotated ears 0000368 Muscular hypotonia Low or weak muscle tone 0001252 Seizures Seizure 0001250 Splenomegaly Increased spleen size 0001744 Percent of people who have these symptoms is not available through HPO Akinesia 0002304 Anemia Low [rarediseases.info.nih.gov]

[…] vermilion ; Hepatic failure ; Hepatomegaly ; Hyperkeratosis ; Hypertelorism ; Hypokinesia ; Intrauterine growth retardation ; Low-set ears ; Microcephaly ; Micrognathia ; Microtia ; Narrow mouth ; Nonimmune hydrops fetalis ; Open mouth ; Opisthotonus ; Petechiae [mousephenotype.org]

0000347 Microtia Small ears Underdeveloped ears [ more ] 0008551 Narrow mouth Small mouth 0000160 Nonimmune hydrops fetalis 0001790 Open mouth Gaped jawed appearance Gaped mouthed appearance Slack jawed appearance [ more ] 0000194 Opisthotonus 0002179 Petechiae [rarediseases.info.nih.gov]

[…] decubitus ulcers, varicose ulcers and dehiscent wounds; and Kerafoam[TM] Emollient Foam, indicated for softening, smoothing and removing rough scaling ictiosis congenita skin in conditions such as xerosis, ichthyosisskin cracks and fissures, dermatitis, eczema [pdffilesofjennifer.online]

[…] beta-glucocerebrosidase protein and activity ; Decreased fetal movement ; Depressed nasal bridge ; Desquamation of skin soon after birth ; Dysphagia ; Everted lower lip vermilion ; Everted upper lip vermilion ; Hepatic failure ; Hepatomegaly ; Hyperkeratosis ; Hypertelorism [mousephenotype.org]

[…] lip vermilion Drooping lower lip Outward turned lower lip [ more ] 0000232 Everted upper lip vermilion Outward turned upper lip 0010803 Hepatic failure Liver failure 0001399 Hepatosplenomegaly Enlarged liver and spleen 0001433 Hyperkeratosis 0000962 Hypertelorism [rarediseases.info.nih.gov]

[…] pneumonia Feeding difficulties Paraplegia Acrania Apnea Esotropia Babinski sign Aspiration Cardiac arrest Protuberant abdomen Acute encephalopathy Bulbar signs Abnormal pattern of respiration Abnormality of the periventricular white matter Frequent falls Hypertelorism [mendelian.co]

Microcephaly ; Micrognathia ; Microtia ; Narrow mouth ; Nonimmune hydrops fetalis ; Open mouth ; Opisthotonus ; Petechiae ; Polyhydramnios ; Premature birth ; Progressive neurologic deterioration ; Respiratory distress ; Retrognathia ; Seizures ; Short [mousephenotype.org]

0001622 Progressive neurologic deterioration Worsening neurological symptoms 0002344 Respiratory distress Breathing difficulties Difficulty breathing [ more ] 0002098 Retrognathia Receding chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Short [rarediseases.info.nih.gov]

nasal bridge ; Desquamation of skin soon after birth ; Dysphagia ; Everted lower lip vermilion ; Everted upper lip vermilion ; Hepatic failure ; Hepatomegaly ; Hyperkeratosis ; Hypertelorism ; Hypokinesia ; Intrauterine growth retardation ; Low-set ears [mousephenotype.org]

nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Ectropion Eyelid turned out 0000656 Fetal akinesia sequence 0001989 Hepatomegaly Enlarged [rarediseases.info.nih.gov]

nasal root [ more ] 0005280 Ectropion Eyelid turned out 0000656 Fetal akinesia sequence 0001989 Hepatomegaly Enlarged liver 0002240 High palate Elevated palate Increased palatal height [ more ] 0000218 Hypertonia 0001276 Low-set, posteriorly rotated [rarediseases.info.nih.gov]

protein and activity ; Decreased fetal movement ; Depressed nasal bridge ; Desquamation of skin soon after birth ; Dysphagia ; Everted lower lip vermilion ; Everted upper lip vermilion ; Hepatic failure ; Hepatomegaly ; Hyperkeratosis ; Hypertelorism [mousephenotype.org]