| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| HP:0000340 | Sloping forehead | "A form of the forehead that slopes from top to bottom in an anterior direction." [HPO:curators] |
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| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| HP:0000737 | Irritability | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001344 | Absent speech development | |
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| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| HP:0001394 | Cirrhosis | |
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| HP:0001399 | Hepatic failure | |
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| HP:0001433 | Hepatosplenomegaly | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001510 | Growth retardation | |
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| HP:0001531 | Failure to thrive in infancy | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001999 | Facial dysmorphism | |
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| HP:0002028 | Chronic diarrhea | |
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| HP:0002059 | Cerebral atrophy | |
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| HP:0002079 | Hypoplasia of the corpus callosum | "Underdevelopment of the corpus callosum." [HPO:curators] |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002254 | Intermittent diarrhea | |
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| HP:0002509 | Limb hypertonia | |
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| HP:0002788 | Recurrent upper respiratory tract infections | |
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| HP:0002910 | Elevated transaminases | "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators] |
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| HP:0003124 | Hypercholesterolemia | |
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| HP:0003155 | Elevated alkaline phosphatase | "Abnormally increased serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson] |
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| HP:0003256 | Abnormalities of the clotting factors | |
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| HP:0004798 | Gastrointestinal infections | |
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| HP:0006583 | Fatal liver failure in infancy | |
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| HP:0006892 | Cerebral atrophy, frontotemporal, progressive | |
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| HP:0008935 | Hypotonia, neonatal, generalized | |
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| HP:0008936 | Muscular hypotonia of the trunk | "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk." [HPO:curators] |
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| HP:0011172 | Complex febrile seizures | "Febrile seizures with focal semiology, duration of more than 15 minutes, or occurring in a cluster of 2 or more convulsions within 24 hours." [HPO:jalbers] |
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| HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
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| HP:0012301 | Type II transferrin isoform profile | "Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation." [HPO:probinson, pmid:15105360] |
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| HP:0012358 | Abnormal protein O-linked glycosylation | "An anomaly of `protein O-linked glycosylation` (GO:0006493), i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue." [HPO:probinson] |
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| HP:0040187 | Neonatal sepsis | |
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| HP:0100874 | Thick hair | "Increased density of `hairs` (FMA:53667), i.e., and elevanted number of hairs per unit area." [HPO:probinson] |
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