Select item 78687 Argininosuccinate lyase deficiency ASA deficiency ASL deficiency Arginino succinase deficiency Argininosuccinate acidemia Argininosuccinic Aciduria Argininosuccinic acid lyase deficiency Inborn error of urea synthesis, arginino succinic type Urea cycle disorder, arginino succinase type Select item 155704 Spinocerebellar ataxia type 2 CEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS OLIVOPONTOCEREBELLAR ATROPHY II Olivopontocerebellar atrophy 2 Olivopontocerebellar atrophy Holguin type SCA 2 SPINOCEREBELLAR ATROPHY II Spinocerebellar ataxia Cuban type Spinocerebellar ataxia with slow eye movements Spinocerebellar atrophy 2 Wadia Swami syndrome Select item 375285 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Dementia, hereditary dysphasic disinhibition FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, GRN-RELATED FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS FTLD-TDP, GRN-RELATED Frontotemporal dementia, ubiquitin-positive GRN-Related Frontotemporal Dementia Select item 1635567 Adams-Oliver syndrome 1 ABSENCE DEFECT OF LIMBS, SCALP, AND SKULL APLASIA CUTIS CONGENITA WITH TERMINAL TRANSVERSE LIMB DEFECTS Aplasia cutis congenita with terminal transverse defects of limbs, and skull defects CONGENITAL SCALP DEFECTS WITH DISTAL LIMB REDUCTION ANOMALIES Forrest H Adams syndrome Scalp and head syndrome Scalp defects with ectrodactyly Select item 811387 Hypokalemic periodic paralysis, type 1 Select item 401500 Autosomal recessive juvenile Parkinson disease 2 Juvenile parkinsonism Parkin Type of Early-Onset Parkinson Disease Parkin Type of Juvenile Parkinson Disease Parkinson disease 2 Parkinson disease autosomal recessive, early onset Parkinson disease, juvenile, autosomal recessive Parkinson disease, juvenile, type 2 Parkinsonism, early onset, with diurnal fluctuation Select item 413748 Hypokalemic periodic paralysis, type 2 Select item 934763 Progeroid and marfanoid aspect-lipodystrophy syndrome MARFAN-PROGEROID-LIPODYSTROPHY SYNDROME MARFANOID-PROGEROID SYNDROME MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME Marfan lipodystrophy syndrome Select item 481812 Adams-Oliver syndrome 2 Select item 318833 Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 AMYOTROPHIC LATERAL SCLEROSIS, CHMP2B-RELATED Amyotrophic lateral sclerosis 17 CHMP2B-related frontotemporal dementia Frontotemporal dementia, chromosome 3-linked Select item 1631383 Paroxysmal nonkinesigenic dyskinesia 1 Dystonia 8 Familial Paroxysmal Nonkinesigenic Dyskinesia Familial paroxysmal choreoathetosis Mount-Reback syndrome Nonkinesigenic choreoathetosis Paroxysmal dystonic choreoathetosis PxMD-PNKD Select item 357007 Perry syndrome Parkinsonism with alveolar hypoventilation and mental depression Select item 342070 Lateral meningocele syndrome Select item 863407 Adams-Oliver syndrome 5 Select item 163239 Brown-Vialetto-van Laere syndrome 1 BROWN-VIALETTO-VAN LAERE SYNDROME 1, MILD BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS PONTOBULBAR PALSY WITH DEAFNESS Pontobulbar palsy and neurosensory deafness Riboflavin Transporter Deficiency, Type 3 (Brown-Vialetto-Van Laere Syndrome 1) Select item 481352 Distal myopathy with posterior leg and anterior hand involvement Myopathy, distal, 4 WILLIAMS DISTAL MYOPATHY Select item 346653 Hereditary angioedema type 3 ANGIONEUROTIC EDEMA, HEREDITARY, WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION ESTROGEN-RELATED HAE ESTROGEN-SENSITIVE HAE HAE WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION Hereditary angioedema, type III Select item 375157 Neuronopathy, distal hereditary motor, type 7B HMN VIIB LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 14 NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VIIB NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VIIB NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, HARDING TYPE VIIB Select item 78544 Adams-Oliver syndrome Select item 815422 Adams-Oliver syndrome 4 
